- Indonesia
Retno Danarti
Universitas Gadjah Mada (Yogyakarta), School of Medicine, Faculty Member
- Pediatric Dermatologyedit
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity of phenotypes and genotypes. There are four main types of EB: simplex, junctional, dystrophic, and Kindler syndrome, which are... more
Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases known to have heterogenicity of phenotypes and genotypes. There are four main types of EB: simplex, junctional, dystrophic, and Kindler syndrome, which are further classified into 34 distinct subtypes. Twenty different gene mutations are responsible for the loss of function and integrity of the basal membrane zone. In limited-resource settings such as Indonesia, diagnoses of hereditary skin disease often rely on clinical features. This limitation was managed by using the Clinical Diagnostic Matrix EB for clinical diagnosis support and whole-exome sequencing for genetic analysis. This study is the first whole-exome sequencing analysis of Javanese Indonesian patients with EB. The genetic analysis from four patients with EB identified all novel mutations unreported in the dbSNP database. There are Kindler syndrome with FERMT1 frameshift mutation in exon 4, at c.388A (p.I130fs), which causes truncated protein; j...
Research Interests:
Research Interests:
Research Interests:
Diffuse cutaneous mastocytosis is a rare form of cutaneous mastocytosis that can appear in heterogeneous clinical presentations, including eruption of papules, erythematous plaques, blisters, and erythroderma. We report a 1.5- year-old... more
Diffuse cutaneous mastocytosis is a rare form of cutaneous mastocytosis that can appear in heterogeneous clinical presentations, including eruption of papules, erythematous plaques, blisters, and erythroderma. We report a 1.5- year-old boy who presented with itchy wheals and blisters spreading on his body. The patient was initially managed as a linear IgA bullous dermatosis of childhood because of the similarity of clinical symptoms and the presenting of linear IgA deposits at the basement membrane. Due to the development of urticarial plaque after the resolution of the blisters, the diagnosis of diffuse cutaneous mastocytosis was made based on clinical, histopathological (hematoxylin-eosin, Giemsa, and toluidine blue staining), and direct immunofluorescent examinations (IgA, IgG, IgM, C3). The symptoms were improved following antihistamines and oral corticosteroid treatment.
Research Interests:
Association between atopy and development of allergic contact dermatitis (ACD) remains controversial. T cell disfunctions in a patient with atopy complicate the process of nickel sensitization. On the other, the decrease of the skin... more
Association between atopy and development of allergic contact dermatitis (ACD) remains controversial. T cell disfunctions in a patient with atopy complicate the process of nickel sensitization. On the other, the decrease of the skin barrier function and overexpression of Langerhans cells in the patient facilitate the sensitization. This study aimed to evaluate the association between atopy and incidence of nickel ACD. A case-control study was carried out in Allergic and Immunology Sub Department of Dermato-Venereology Policlinic, Dr. Sardjito General Hospital, Yogyakarta, involving 54 nickel ACD patients as case group and 74 healthy subjects as control group. All subjects underwent prick test allergens i.e. house dust, dust mite, cockroach, mixed fungi, nuts and egg white. The skin reaction was considered as a positive result if a wheal diameter of at least 3 mm larger than the negative control or a minimum of half of the positive control. The relationship between atopy and the nic...
Background: Beautifully and colorfully dyed batik cloth is an Indonesian cultural heritage. Batik production exposes workers and the environment to various physical and chemical hazards. This interdisciplinary study aimed to assess the... more
Background: Beautifully and colorfully dyed batik cloth is an Indonesian cultural heritage. Batik production exposes workers and the environment to various physical and chemical hazards. This interdisciplinary study aimed to assess the environmental and health parameters of batik workers, and apply environmental and health interventions to achieve environmentally friendly batik production with no human hazards.Methods: To assess the environmental pollutants, the wastewater quality parameters were measured. Air pollutant assessment was done using a low volume sampler. Liver, kidney function and blood chromium were compared between batik workers and healthy controls. Health interventions were done to choose the best gloves for the batik workers followed with assessing convenience level of selected gloves and identifying obstacles that prevent them from using gloves properly. The effectiveness of nerve gliding and wrist exercises in improving carpal tunnel syndrome clinical symptoms we...
Research Interests:
A 50-year-old man presented to our dermatology clinic with itchy skin rash. The rash began 5 days after systemic symptoms appeared such as mild fever and mild dyspnoea. The rashes were a characteristic of follicular eruption, which... more
A 50-year-old man presented to our dermatology clinic with itchy skin rash. The rash began 5 days after systemic symptoms appeared such as mild fever and mild dyspnoea. The rashes were a characteristic of follicular eruption, which started on his stomach and spread all over his body. After a thorough evaluation, he was diagnosed with COVID-19 and was started on COVID-19 regimens. Skin lesions disappeared on the ninth day of treatment. Our findings contribute to the growing awareness of dermatological manifestations in patients with COVID-19.
Research Interests:
Lupus pannikulitis (LP), suatu variasi klinis kulit yang jarang pada lupus eritematosus kutan, jarang terjadi pada anak. Perjalanan penyakit lambat sehingga penegakan diagnosis sering terlambat.Anak laki-laki 13 tahun mengeluh area cekung... more
Lupus pannikulitis (LP), suatu variasi klinis kulit yang jarang pada lupus eritematosus kutan, jarang terjadi pada anak. Perjalanan penyakit lambat sehingga penegakan diagnosis sering terlambat.Anak laki-laki 13 tahun mengeluh area cekung pada wajah sejak usia 11 tahun diikuti cekung pada kepala. Benjolan sewarna kulit pada kedua lengan dirasakan selama 1 bulan. Terdapat atrofi pada kedua pipi dengan tepi lesi dikelilingi bercak merah keunguan. Pada skalp tampak alopesia dengan atrofi multipel, dikelilingi bercak eritematosa di tepinya. Pada kedua lengan atas terdapat nodul subkutan sewarna kulit, multipel, perabaan keras, dan tidak nyeri. Pemeriksaan histopatologis lesi wajah dan skalp dengan pewarnaan HE didapatkan ortokeratosis linear dengan sumbat keratotik pada epidermis. Pada dermis atas terdapat sebukan sel radang didominasi limfosit, dermis tengah kolagenisasi hingga jaringan subkutan, tampak sel radang pada jaringan subkutan septal-lobular dengan dominasi limfosit dan nekro...
Research Interests:
Nekrosis lemak subkutan pada bayi lelaki baru lahir merupakan panikulitis yang jarang terjadi. Kelainan ini dijumpai pada bayi baru lahir (BBL) cukup bulan atau lebih bulan, ditandai dengan nodus atau plak subkutan di area kulit yang... more
Nekrosis lemak subkutan pada bayi lelaki baru lahir merupakan panikulitis yang jarang terjadi. Kelainan ini dijumpai pada bayi baru lahir (BBL) cukup bulan atau lebih bulan, ditandai dengan nodus atau plak subkutan di area kulit yang terbatas/terlokalisasi. Kutis marmorata fisiologis ditandai oleh “patch” eritematosa yang tersusun retikuler dan membentuk gambaran seperti marmer. Lesi kulit ini merupakan respons vaskular tubuh bayi terhadap suhu dingin. Kondisi ini hilang timbul sesuai perubahan suhu lingkungan. Pada makalah ini dilaporkan satu kasus nekrosis lemak subkutan pada BBL disertai dengan kutis marmorata fisiologis. Diagnosis ditegakkan berdasarkan pemeriksaan klinis dan histopatologis. Faktor risiko yang ditemukan berupa riwayat asfiksia saat lahir dan riwayat preeklamsi berat pada ibu selama hamil. Tujuan laporan kasus ini adalah untuk meningkatkan kewaspadaan klinisi terhadap kelainan kulit yang mungkin dijumpai pada bayi baru lahir dan diharapkan dapat meningkatkan kema...
Research Interests:
Moisturizer is a major component of basic daily skin care, particularly in presence of epidermal barrier alteration and reduced epidermal water content. It is an important part of a dermatologist's strategy to maintain skin health as... more
Moisturizer is a major component of basic daily skin care, particularly in presence of epidermal barrier alteration and reduced epidermal water content. It is an important part of a dermatologist's strategy to maintain skin health as well as treating various dermatoses which co-exist with skin dryness, linked to impaired skin barrier function such as in atopic disorder as well as other types of dermatitis. Mastering the knowledge regarding action mechanism, application, dosage, adverse effects as well as specific clinical usage of moisturizers is must for a dermatologist, in order to support the capability to recommend their use, particularly for therapeutic purposes, in accordance with evidence-based medicine. This review is aimed to discuss the use of moisturizer both as skin health maintenance as well as a definitive or adjuvant therapy, particularly for many kinds of dermatitis.
Research Interests:
Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress... more
Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1). To date no reported cases from Indonesia. The aims of the study were to describe the typical features of mal de Meleda cases in a Javanese family in Indonesia and identify the mutation in the ARS B gene which encodes SLURP1. In this study, three Javanese patients, siblings from nonconsanguineous nonaffected parents, presented with classical symptoms of mal de Meleda. Genetic analysis screening SLURP1 gene was conducted for the specimens from the patients and other family members. A novel homozygous three-nucleotide delet...
Research Interests:
Background: Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are currently regarded to be same disease entity which differs only in the extent and severity of epidermal sloughing. Both are potentially life-threatening... more
Background: Stevens-Johnson syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are currently regarded to be same disease entity which differs only in the extent and severity of epidermal sloughing. Both are potentially life-threatening mucocutaneous immunologic reaction, which are most frequently induced by drug consumption. The epithelial destruction of skin and mucosal membrane can cause both acute as well as chronic/ long term outcomes in term of late sequelae during the course of the disease. Sequelae often occur during the late phase of SJS/TEN and become a significant problem due its chronicity and severe degree of impairment, which leads to deterioration of quality of life for the patients. This may prevented or decreased in terms of intensity if the patient's received prompt and sufficient topical therapy, particularly in managing lesions on the mucosa of the eye, oral, and genital. Objective : This review underlines topical therapies which could be delivered for management of mucocutaneous lesions from SJS/ TEN, aimed to prevent late sequelae due to SJS – TEN in order to improve the life quality of SJS – TEN survivors. Conclusion: SJS/ TEN frequently lead to late sequeale which includes skin, ocular, oral, and genital involvement. These sequelaes are often severe and chonic. Thus, may cause significant decrease in quality of life of SJS/TEN survivors. It is therefore most important to detect them early in order to manage them adequately. To date, we still have an impression that the specific sequelae of SJS – TEN are often late diagnosed and insufficiently treated. Finally, we want to emphasize that for mucosal involvement in particular, such as ocular, genital and oral involvement, a careful topical treatment have to be taken into special consideration in order to prevent severe late sequelae.
Research Interests:
Research Interests:
Research Interests:
Neurofibromatosis type 1 (NF1) is a genetic disorder that is most common found. The disorder is autosomal dominant inheritance with penetrance 98-100% and has 50% mutation rate. Children with NF1 have a skin disorder varies, from mild... more
Neurofibromatosis type 1 (NF1) is a genetic disorder that is most common found. The disorder is autosomal dominant inheritance with penetrance 98-100% and has 50% mutation rate. Children with NF1 have a skin disorder varies, from mild form of macular café-au-lait spots and axillary freckling until neurofibroma. NF1 is also associated with an increased risk of malignancy, cognition disorders, psychiatric disorders, and epilepsy in children. Reported one case, a 12 years old boy, complained arise brownish spots on his back and armpits since he was 4 years old, history of seizures was denied and academic performance at school was fine. On physical examination found multiple café-au-lait spots and axillary freckling. No Lisch nodule and other abnormalities in the eye examination. Electroencephalography examination found abnormal epileptiform waves and brain mapping does not show focus and asymmetry. Examination of children's depression inventory is not found depression. Projective drawing showed a tendency dominancy in the group, tend to assert himself, imbalance of desire and ability, hence it may cause inner conflict, anxious, and insecure. NF1 diagnosis should be considered in cases of multiple café-au-lait, because it will affect the prediction of neurological disorders, psychiatric disorders, and the prediction of genetic inheritance. Hence, investigation of neurologic and psychiatric disorders is important related NF1 notion.
Background: Sturge-Weber Syndrome (SWS) is a neurocutaneous defect involving facial Port Wine Stain (PWS) with vascular deficits in the brain and ipsilateral eyes. Facial PWS can be the initial marker and help predict the severity of SWS.... more
Background: Sturge-Weber Syndrome (SWS) is a neurocutaneous defect involving facial Port Wine Stain (PWS) with vascular deficits in the brain and ipsilateral eyes. Facial PWS can be the initial marker and help predict the severity of SWS. Aims and objectives: To study the association of facial PWS characteristics, neurological and ophthalmological deficits in SWS with the degree of severity. Materials and Methods: A retrospective descriptive study of patients with SWS was conducted at Dr. Sardjito Hospital between January 2010 - December 2020. Facial PWS characteristics were assessed from photographs. Assessments of neurological and ophthalmological deficits used physical and supportive examinations, including Electroencephalogram (EEG), Magnetic Resonance Imaging (MRI), and Intelligent-Quotient (IQ). Results: From 19 female patients aged 1 month to 26 years with facial PWS, seven fulfilled the inclusion criteria. “High risk” facial PWS V1 and P1 b distribution patterns were found i...
Alopesia areata (AA) merupakan penyakit autoimun yang ditandai dengan alopesia non-sikatrisial. Kondisi ini merupakan dermatosis yang umum ditemui pada anak. Gambaran klinisnya berupa alopesia non-sikatrisial fokal, perlu dibedakan dari... more
Alopesia areata (AA) merupakan penyakit autoimun yang ditandai dengan alopesia non-sikatrisial. Kondisi ini merupakan dermatosis yang umum ditemui pada anak. Gambaran klinisnya berupa alopesia non-sikatrisial fokal, perlu dibedakan dari kondisi dapatan serupa lainnya, terutama yang sering terjadi pada anak. Kami melaporkan 5 kasus AA pada anak berusia di bawah 18 tahun. Diagnosis berdasarkan pemeriksaan klinis dan penunjang. Pemahaman karakteristik AA perlu diketahui untuk diagnosis, terutama pada pasien anak.Alopecia areata (AA) is a chronic autoimmune disease characterized by non-scarring alopecia. It is one of the most commonly found dermatosis in pediatric population. The clinical manifestations of focal non-scarring alopecia must be differentiated from other acquired focal non-scarring alopecia, especially those in children. This paper report 5 AA cases in children. Diagnosis was based on clinical and supporting examinations. Understanding the characteristics of AA, particularl...
Research Interests:
Introduction. Uncontrolled diabetes mellitus (DM) is related to skin disorders, particularly dry skin. Pathogenesis of dry skin in type 2 diabetes mellitus (T2DM) rises from the chronic hyperglycemia causing an increase in advanced... more
Introduction. Uncontrolled diabetes mellitus (DM) is related to skin disorders, particularly dry skin. Pathogenesis of dry skin in type 2 diabetes mellitus (T2DM) rises from the chronic hyperglycemia causing an increase in advanced glycation end-products (AGEs), proinflammatory cytokines, and oxidative stress. Combination of oral and topical Centella asiatica (CA) is expected to treat dry skin in T2DM patients more effectively through decreasing N(6)-carboxymethyl-lysine (CML) and interleukin-1α (IL-1α) and increasing superoxide dismutase (SOD) activity. Methods. A three-arm prospective, double-blind, randomized, controlled study was performed to evaluate the efficacy of the oral and topical CA extract in 159 T2DM patients with dry skin. The subjects were divided into the CA oral (CAo) 2 × 1.100 mg + CA topical (CAt) 1% ointment group, oral placebo (Plo) + CAt group, and Plo and topical placebo (Plt) group. Dry skin assessment was performed on day 1, 15, and 29, while evaluation of ...
Research Interests:
Metotreksat (MTX) merupakan antagonis asam folat yang umum digunakan sebagai terapi pada berbagai kelainan kulit, namun data mengenai penggunaan MTX pada anak masih sangat terbatas. Berdasarkan studi literatur yang telah kami lakukan, MTX... more
Metotreksat (MTX) merupakan antagonis asam folat yang umum digunakan sebagai terapi pada berbagai kelainan kulit, namun data mengenai penggunaan MTX pada anak masih sangat terbatas. Berdasarkan studi literatur yang telah kami lakukan, MTX menimbulkan respons klinis yang bagus dan efek samping minimal pada beberapa dermatosis anak, yaitu psoriasis, dermatitis atopik, vaskulitis, skleroderma lokalisata, dermatomiositis juvenilis, pitiriasis likenoides, sarkoidosis, penyakit bulosa autoimun, alopesia areata, dan lupus eritematosus. Secara umum toleransi anak terhadap MTX baik, dan jarang terjadi efek samping serius. Intoleransi gastrointestinal dapat terjadi, dan berespons baik terhadap pengurangan dosis obat. Berbagai pertimbangan harus dilakukan sebelum memulai terapi dengan MTX, antara lain pemeriksaan darah lengkap, fungsi hati, dan fungsi ginjal. Pemantauan terapi berupa biopsi hepar dan pemeriksaan serum type III pro-collagen aminopeptide belum rutin dilakukan. Pada telaah pustak...
Latar belakang. Terapi kortikosteroid ultrapoten menjadi terapi topikal standar untuk HI. Namun, kortikosteroid banyak efeksamping dan respon yang kadang gagal, perlu alternatif terapi topikal lain. Solusio dan gel timolol maleat 0,5%... more
Latar belakang. Terapi kortikosteroid ultrapoten menjadi terapi topikal standar untuk HI. Namun, kortikosteroid banyak efeksamping dan respon yang kadang gagal, perlu alternatif terapi topikal lain. Solusio dan gel timolol maleat 0,5% merupakan betabloker non selektif yang ternyata dapat menghambat proliferasi dan memicu regresi HI.Tujuan. Mengetahui efikasi terapi kortikosteroid topikal ultrapoten, solusio, dan gel timolol maleat 0,5% pada hemangioma infantilsuperfisial.Metode. Desain penelitian kohort retrospektif, dilibatkan 79 pasien HI superfisial dalam kurun waktu Januari 2011-Oktober 2015di RSUP. Dr. Sardjito, Yogyakarta.Hasil. Perbandingan selisih luas antara ketiga kelompok didapatkan perbedaan yang bermakna antara solusio timolol maleat 0,5%dibandingkan kortikosteroid ultrapoten 0,5% (p<0,001). Gel timolol maleat 0,5% dibandingkan kortikosteroid ultrapoten (p<0,001).Perbandingan antara selisih luas lesi setelah terapi solusio dan gel timolol maleat 0,5% tidak berbeda...
Research Interests:
Auteur(s) : Retno DANARTI, Rudolf HAPPLE Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, 35037 Marburg, Germany To the Editor Recently Baba et al. [1] described two sisters with cutis tricolor, a disorder... more
Auteur(s) : Retno DANARTI, Rudolf HAPPLE Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, 35037 Marburg, Germany To the Editor Recently Baba et al. [1] described two sisters with cutis tricolor, a disorder characterized by nevoid areas of hyper- and hypopigmented macules and thus representing a possible example of didymosis [2]. To explain the unusual familial occurrence of this trait, Baba et al. discussed the possibility of paradominant inheritance. In both [...]
Research Interests: Adolescent, Medicine, Humans, Female, Male, and 4 moreClinical Sciences, Mosaicism, Skin Neoplasms, and Nevus
Cutaneous lupus erythematosus (CLE) is an inflammatory, autoimmune disease encompassing a broad spectrum of subtypes including acute, subacute, chronic and intermittent CLE. Among these, chronic CLE can be further classified into several... more
Cutaneous lupus erythematosus (CLE) is an inflammatory, autoimmune disease encompassing a broad spectrum of subtypes including acute, subacute, chronic and intermittent CLE. Among these, chronic CLE can be further classified into several subclasses of lupus erythematosus (LE) such as discoid LE, verrucous LE, LE profundus, chilblain LE and Blaschko linear LE. To provide all dermatologists and rheumatologists with a practical guideline for the diagnosis, treatment and long-term management of CLE, this evidence- and consensus-based guideline was developed following the checklist established by the international Reporting Items for Practice Guidelines in Healthcare (RIGHT) Working Group and was registered at the International Practice Guideline Registry Platform. With the joint efforts of the Asian Dermatological Association (ADA), the Asian Academy of Dermatology and Venereology (AADV) and the Lupus Erythematosus Research Center of Chinese Society of Dermatology (CSD), a total of 25 d...
Research Interests: Autoimmunity and Medicine
Latar Belakang: Akantosis nigrikans (AN) merupakan kelainan kulit yang ditandai dengan patch atau plak hiperpigmentasi dengan permukaan kasar dan struktur seperti beludru yang biasanya terdistribusi simetris pada daerah lipatan. Selain... more
Latar Belakang: Akantosis nigrikans (AN) merupakan kelainan kulit yang ditandai dengan patch atau plak hiperpigmentasi dengan permukaan kasar dan struktur seperti beludru yang biasanya terdistribusi simetris pada daerah lipatan. Selain merupakan tanda klinis yang kuat adanya resistensi insulin dan sindrom metabolik, AN berhubungan pula dengan keganasan, penggunaan obat-obatan, serta dapat menjadi salah satu manifestasi yang menyertai sindrom. Tujuan: Menjelaskan patofisiologi, manifestasi klinis, diagnosis, serta klasifikasi AN. Telaah Kepustakaan: Klasifikasi AN yang ada seringkali tidak konsisten, tumpang tindih dan membingungkan. Hal terpenting dari diagnosis AN adalah membedakan apakah lesi yang ada termasuk ke dalam lesi jinak atau ganas, yang akan memengaruhi pemberian terapi dan prognosis penyakit. Terapi AN tergantung dari penyebab yang mendasari dan ditujukan untuk memperbaiki penampilan dari segi kosmetik. Simpulan: Kewaspadaan klinisi harus ditingkatkan pada kasus AN untu...
Research Interests:
DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails... more
DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficit, and seizures. The disease is caused by homozygous or compound heterozygous mutation in the TBC1 domain family member 24 (TBC1D24) gene (gene locus/MIM 613577) on chromosome 16p13. We report the first case of DOORS syndrome from Indonesia. A review of the literature was conducted and cases compared. A 27-day-old baby girl was brought to us with a history of recurrent seizures and absence of all fingerand toenails since birth. In addition, physical examination revealed left eye strabismus and a single transverse palmar crease on both hands. X-rays of the hands and feet showed absence of the distal phalanx of her right and left fingers II-V and the distal phalanx of her right and left toes I-V, respectively. Bra...
Chronic wounds present a major disease burden in people with recessive dystrophic epidermolysis bullosa (RDEB), an inherited blistering skin disorder caused by mutations in COL7A1 encoding type VII collagen, the major component of... more
Chronic wounds present a major disease burden in people with recessive dystrophic epidermolysis bullosa (RDEB), an inherited blistering skin disorder caused by mutations in COL7A1 encoding type VII collagen, the major component of anchoring fibrils at the dermal-epidermal junction. Treatment of RDEB wounds is mostly symptomatic and there is considerable unmet need in trying to improve and accelerate wound healing. In this study, we defined transcriptomic profiles and gene pathways in RDEB wounds and compared these to intact skin in RDEB and healthy control subjects. We then used a reverse transcriptomics approach to discover drugs or compounds which might restore RDEB wound profiles towards intact skin. Differential expression analysis identified >2000 differences between RDEB wounds and intact skin, with RDEB wounds displaying aberrant cytokine-cytokine interactions, Toll-like receptor signalling, and JAK-STAT signalling pathways. In silico prediction for compounds that reverse gene expression signatures highlighted methotrexate as a leading candidate. Overall, this study provides insight into the molecular profiles of RDEB wounds and underscores the possible clinical value of reverse transcriptomics data analysis in RDEB, and the potential of this approach in discovering or repurposing drugs for other diseases.
Research Interests:
Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo‐ as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology... more
Poikiloderma is a skin condition that combines atrophy, telangiectasia, and macular pigment changes (hypo‐ as well as hyperpigmentation). It is often mistaken for mottled pigmentation by general practitioners or nondermatology specialists. Poikiloderma can be a key presenting symptom of Rothmund‐Thomson syndrome (RTS), dyskeratosis congenita (DC), hereditary sclerosing poikiloderma (HSP), hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), xeroderma pigmentosum (XP), Bloom syndrome (BS), Kindler syndrome (KS), and Clericuzio‐type poikiloderma with neutropenia (PN). In these conditions, poikiloderma starts early in life, usually before the second or third year. They may also be associated with photosensitivity and other significant multi‐organ manifestation developed later in life. Poikiloderma could indicate the presence of a genetic disorder with potentially serious consequences. Poikiloderma almost always precedes more severe manifestations of these genodermatoses. Prompt diagnosis at the time of presentation could help to prevent complications and mitigate the course of the disease. This review discusses these to help the practicing clinician manage patients presenting with the symptom. To further facilitate early recognition, this paper also proposes a simple diagnostic algorithm.
Research Interests:
Juvenile dermatomiyositis (JDM) merupakan suatu penyakit autoimun infl amatif yang jarang dijumpai dan secara khas ditandai oleh adanya lesi-lesi kulit tipikal serta kelemahan otot proksimal yang simetris. Etiologi penyakit tersebut belum... more
Juvenile dermatomiyositis (JDM) merupakan suatu penyakit autoimun infl amatif yang jarang dijumpai dan secara khas ditandai oleh adanya lesi-lesi kulit tipikal serta kelemahan otot proksimal yang simetris. Etiologi penyakit tersebut belum diketahui dengan pasti, namun demikian patogenesisnya diketahui bersifat multifaktorial meliputi faktor genetik, paparan sinar ultra violet (UV) serta infeksi oleh berbagai mikroba seperti virus Coxsackie atau Borrelia burgdorferi. Penegakan diagnosis JDM adalah berdasarkan kriteria Bohan-Peter meliputi: 1) kelemahan otot proksimal simetris, 2) peningkatan enzim otot, 3) infl amasi miopati pada hasil biopsi otot 4) gambaran miyopati pada hasil pemeriksaan EMG, dan 5) lesi kulit tipikal. Ditemukannya papul-papul Gottron dan heliotrope rash di kulit, serta adanya kelemahan otot proksimal yang simetris, merupakan manifestasi klinis yang khas untuk JDM. Terapi lini pertama penatalaksanaan JDM adalah kortikosteroid sistemik. Dilaporkan satu kasus JDM pa...
Research Interests:
Nevus melanositik kongenital (NMK) atau giant congenital melanocytic nevus merupakan nevus yang muncul saat lahir atau timbul beberapa minggu pertama kehidupan. Lesi dengan ukuran besar dapat menimbulkan masalah psikososial... more
Nevus melanositik kongenital (NMK) atau giant congenital melanocytic nevus merupakan nevus yang muncul saat lahir atau timbul beberapa minggu pertama kehidupan. Lesi dengan ukuran besar dapat menimbulkan masalah psikososial dan meningkatkan risiko melanoma maligna (MM). Bila didapatkan di daerah kepala dan leher disertai nevus satelit perlu dipikirkan kemungkinan neurokutaneus melanosis (NM). Data rekam medis poliklinik Kulit dan Kelamin RSUP Dr. Sardjito periode Januari 2009-Desember 2017 didapatkan 12 kasus NMK luas. Pada makalah ini dilaporkan seorang anak perempuan berusia 5 tahun yang sejak lahir didapatkan bercak hiperpigmentasi-keabuan, sebagian disertai hipertrikosis, multipel, berukuran 10 cm hingga >20 cm pada telinga kiri hingga leher kiri dan tengkuk, serta bokong. Sejak usia 2 tahun muncul lesi berukuran lebih kecil berupa makula hingga bercak hiperpigmentasi multipel di wajah, kedua lengan, tungkai, punggung, telapak kaki, dan punggung kaki. Tidak terdap...
Research Interests:
Abstract Objective The purpose of this study was to overcome the undesired systemic absorption of skin topical administration of timolol maleate (TM) by developing the TM nanoparticle gel. Methods TM-loaded nanoparticle (TMNP) was... more
Abstract Objective The purpose of this study was to overcome the undesired systemic absorption of skin topical administration of timolol maleate (TM) by developing the TM nanoparticle gel. Methods TM-loaded nanoparticle (TMNP) was prepared by ionic pre-gelation of pectin (PCN) and calcium ions (CI) followed with polyelectrolyte complex using chitosan (CHI). TMNP was characterized by measuring the particle size, polydispersity index, zeta potential, encapsulation efficiency (EE), and the interaction between formula constituents. TM-loaded nanoparticle gel (TMNG) was prepared by using hydroxypropyl methylcellulose (HPMC) and was characterized by measuring the spreadability, pH, viscosity, and drug content. The drug release kinetics were analyzed using DDSolver add-in program. Results TMNP possessed particle size of 175.2 ± 19.7 nm, polydispersity index of 0.528 ± 0.113, zeta potential of −10.86 ± 0.87 mV, and EE of 27.45 ± 2.34%. The electrostatic interactions between PCN, CI, and CHI that formed the nanoparticles were confirmed by the result of vibrational spectroscopy analysis. TMNG possessed spreadability of 60.80 ± 1.38 cm2, pH of 5.154 ± 0.004, viscosity of 269.07 ± 5.83 cP, and drug content of 107.38 ± 1.77%. TM showed a sustained release manner within 24 h by following Korsmeyer–Peppas kinetical model with non-Fickian release mechanism. Conclusion The prepared nanoparticle gel can be an effective controlled release system of TM that administered topically on the skin surface.
Research Interests:
Research Interests:
Large congenital melanocytic nevi have so far always been considered to occur sporadically, and until now little has been written about a possible role of heredity as a cause of this disorder. We reviewed familial cases of large... more
Large congenital melanocytic nevi have so far always been considered to occur sporadically, and until now little has been written about a possible role of heredity as a cause of this disorder. We reviewed familial cases of large congenital melanocytic nevi as reported in the literature and found 14 case reports with a family history of congenital nevi. We propose the concept of paradominant inheritance as a possible genetic explanation. The concept would imply that heterozygous individuals are phenotypically normal which is why the mutation would be transmitted unperceived through many generations. The trait would become manifest only when loss of heterozygosity occurred at an early developmental stage, giving rise to a patchy area of homozygous or hemizygous cells. This would explain why the lesions of large congenital melanocytic nevi are always arranged in a mosaic pattern; why they occur virtually always sporadically; and why the exceptional cases of a familial aggregation of this trait do not show any consistent Mendelian pattern.
Research Interests:
Research Interests:
Tuberous sclerosis (TSC) (OMIM 191100) is an inherited, autosomal dominant disorder affecting multiple organ systems.1 A genetic mutation in one of the tumor suppressor gene (TSG) alleles causes tumor growth in various organ systems.... more
Tuberous sclerosis (TSC) (OMIM 191100) is an inherited, autosomal dominant disorder affecting multiple organ systems.1 A genetic mutation in one of the tumor suppressor gene (TSG) alleles causes tumor growth in various organ systems. Tuberous sclerosis can be found in people of all races, and does not differ in men and women, with an incidence 1 in 6,000 births and prevalence of 1 in 20,000.1-3 Although the prevalence is quite high, diagnosing this disorder is often difficult and delayed due to diverse disease manifestations and varied age at onset.
Acrodermatitis enteropathica (AcE) is a rare, autosomal recessive inherited disorder caused by mutation of the SLC39A4 gene coding for zinc transport protein (ZIP 4). The disease appears during childhood especially in breastfeeding or... more
Acrodermatitis enteropathica (AcE) is a rare, autosomal recessive inherited disorder caused by mutation of the SLC39A4 gene coding for zinc transport protein (ZIP 4). The disease appears during childhood especially in breastfeeding or post-breastfeeding infant. Eczema herpeticum refers to a disseminated skin infection of herpes simplex virus that usually leads to vesicular eruptions commonly seen on a background of atopic dermatitis (AD). We describe an 11-year-old boy with periorificial erosions in periorbital, perinasal, perioral, perineal, and gluteal areas, accompanied with itchy vesicles, some covered with hemorrhagic crusts. A clinical diagnosis of AcE and eczema herpeticum with AD was supported by typical lesions and acute and chronic eczematous changes found mainly in the flexural aspects of extremities, which is diagnostic of AD. Laboratory findings showed anti HSV1 IgG (23.43) and high levels of IgE (478.9 IU/L). There was no multinucleated giant cell in the Tzanck test. S...
Objective: This study aims to optimize the timolol maleate (TM) nanoparticle prepared by ionic gelation method using the factors of pectin (PC), calcium chloride (CC), and chitosan (CS) concentrations with the responses of entrapment... more
Objective: This study aims to optimize the timolol maleate (TM) nanoparticle prepared by ionic gelation method using the factors of pectin (PC), calcium chloride (CC), and chitosan (CS) concentrations with the responses of entrapment efficiency, particle size, and polydispersity index using 23 factorial design. Methods: TM nanoparticle suspensions were obtained by mixing of PC (0,4-0,6% (w/v)), CC (0,2-0,4% (w/v)), and CS (0,01-0,02% (w/v)) with TM concentration of 0,02% w/v. Each mixture was then tested for entrapment efficiency, particle size, and polydispersity index. The test results were analyzed with 23 factorial design using Design-Expert software in order to determine the optimum formula. Results: The optimization study showed that all of the factors influenced the responses significantly (p<0.05) based on the analysis of variance (ANOVA) of the suggested models. The R2value and the adequate precision value of the three models were more than 0.7 and 4, respectively. The d...
Psoriasis eritroderma pada anak merupakan varian psoriasis yang paling jarang. Kelainan ini ditandai secara khas oleh eritema pada seluruh tubuh dengan skuama putih berlapis tebal, disertai ektropion, eklabium, dan onikodistrofi.... more
Psoriasis eritroderma pada anak merupakan varian psoriasis yang paling jarang. Kelainan ini ditandai secara khas oleh eritema pada seluruh tubuh dengan skuama putih berlapis tebal, disertai ektropion, eklabium, dan onikodistrofi. Manifestasi kulit tersebut sering keliru didiagnosis sebagai iktiosis herediter. Salah satu pilihan terapi sistemik psoriasis eritroderma adalah isotretinoin oral. Obat tersebut bekerja dengan cara menghambat dan mengurangi diferensiasi dan hiperproliferasi keratinosit, serta mencegah infiltrasi sel radang di kulit pada psoriasis. Perlu diperhatikan bahwa isotretinoin dapat menimbulkan efek samping yang berakibat fatal. Pada kasus dilaporkan seorang anak perempuan usia 4,5 tahun dengan kulit seluruh tubuh eritematosa ditutupi skuama putih, melekat, berlapis tebal, disertai ektropion dan eklabium, menyerupai iktiosis herediter. Dengan ditemukannya mikroabses Munro pada pemeriksaan histopatologi, pasien didiagnosis sebagai psoriasis eritroderma. Terapi...
Occupational contact dermatitis (OCD) is a skin disease which is caused by the condition in workplace. Hospital workersin the fifth level of having risk in the job category toward OCD. This serial case reports 2 cases of OCD in the... more
Occupational contact dermatitis (OCD) is a skin disease which is caused by the condition in workplace. Hospital workersin the fifth level of having risk in the job category toward OCD. This serial case reports 2 cases of OCD in the nurse’s hands of hospital ward based on patch test. Twonurse in hospital ward who has itchy complaint on hands and lower arms which are presumed as the result of usingmedical rubber gloves. The result of patch test showed final diagnosis is OCD which is caused by medical rubber gloves.The frequency of occupational contact dermatitis on hands and lower arms caused by irritant and/or allergen on hospital workers is very high during work. Working in wet place, occlusion condition because of gloves, and excessive hand washing are the main cause of OCD on medical workers. The events of OCD on medical workers mostly are related with latex and thiuramwhich are existed in the material of medical gloves. Washing handswith detergent and antiseptic during work to prevent nosocomial infectionare main causes forOCD on medical workers in this case on nurse in hospital ward.