Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis.

Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be confirmed by genetic testing. We present a 2-year-old girl who presented with erythematous and thick scaling skin. Her condition began at birth as multiple flaccid blisters that would easily break into erosions. There was no history of similar condition nor consanguinity within her family. Skin examination revealed diffuse erythematous skin covered with thick scales and erosion, predominantly on her face, extremities, palms, and soles. The skin histopathology examination showed diffuse parakeratosis with vacuolar and granular degeneration within granular and spinous layers along the epidermis. She was diagnosed with generalized EI with palmoplantar hyperkeratosis based on the clinical and histopathological examinations. Clinical improvement was observed after a one-month treatment with mupirocin cream, sodium bicarbonate bath, and moisturizer after bathing.

Acquired Human Papilloma Virus Type 6-Associated Epidermodysplasia Verruciformis in a Patient With Systemic Lupus Erythematosus.

Although historically known as a genetic disorder, epidermodysplasia verruciformis (EV) might be acquired in patients with a noninherited defective cell-mediated immunity. This article reports a case of EV in a patient with systemic lupus erythematosus and a history of 3 years immunosuppressive methylprednisolone treatment. The microscopic features of the skin biopsy showed morphologic changes of the keratinocytes characteristic of human papilloma virus (HPV) infections and immunoreactivity to p16. HPV genotyping demonstrated the presence of HPV 6 which belongs to a low-risk mucosal HPV group and has not been reported in EV previously. The clinical recognition of EV in immunocompromised patients and subsequent HPV typing is important because some patients will develop squamous cell carcinoma.

Concurrence of Acrodermatitis Enteropathica and Eczema Herpeticum in a Child with Atopic Dermatitis.

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. Skin histology was compatible with AcE. Direct immunofluorescent examination showed no deposits of IgG, IgM, IgA, or complement. Complete resolution occurred within 2 weeks of acyclovir and oral zinc supplementation.

Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.

BACKGROUND: 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. PATIENTS AND METHODS: 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. RESULTS: A novel homozygous three-nucleotide deletion in exon 3, i.e. c.271-273TCTdel, was identified in the patients. Subcloning and sequencing revealed both parents (I.2 and I.3) and one of the father's siblings (I.1) carry heterozygous c.271-273TCTdel, while the other father's sibling (I.2), the mother's sister (I.4), and a healthy control matched the ethnicity of the family, showing normal sequence of the entire SLURP1. CONCLUSION: This is the first mal de Meleda case of Javanese ethnicity to be documented, and the unique mutation has not previously been reported. The finding supports the notion that despite the rarity, SLURP1 mutation causing mal de Meleda is ubiquitous.

Topical Timolol Maleate 0.5% for Infantile Hemangioma: Its Effectiveness Compared to Ultrapotent Topical Corticosteroids - A Single-Center Experience of 278 Cases.

BACKGROUND: Infantile hemangioma (IH) may have implications on parental distress and cosmetic disfigurement. To date, ultrapotent corticosteroids are used as a treatment of choice for superficial IH. However, due to their side effects and sometimes lack of IH regression, it is necessary to find alternative topical therapies. Timolol maleate 0.5% solution and gel are nonselective ß-blockers that could inhibit proliferation and trigger regression of IH. OBJECTIVE: To evaluate the efficacy of topical ultrapotent corticosteroids and timolol maleate 0.5% solution and gel for superficial IH. PATIENTS AND METHODS: The study design was prospective. Two hundred and seventy-eight patients diagnosed as having superficial IH were enrolled from the outpatient clinic of the Department of Dermatology and Venereology, Dr. Sardjito Hospital, Yogyakarta, Indonesia, from January 2009 to December 2014. Patients were divided into three groups: A = treated with topical ultrapotent corticosteroid, B = timolol maleate 0.5% solution and C = timolol maleate 0.5% gel. Patients were followed for 6 months to evaluate the lesion. Lesion size was measured from scaled photodocumentation with the software program ImageJ®. RESULTS: There were significant differences in IH size after treatment with timolol maleate 0.5% solution compared with ultrapotent corticosteroids (p < 0.001) and timolol maleate 0.5% gel compared with ultrapotent corticosteroids (p < 0.001). There was no significant difference in IH lesions after treatment with timolol maleate 0.5% solution versus gel (p = 0.744). CONCLUSION: Timolol maleate 0.5% solution and gel were significantly superior to topical ultrapotent corticosteroids in size reduction of superficial IH.

Cellular viability, collagen deposition, and transforming growth factor ß1 production among ultraviolet B-irradiated keloid fibroblasts.

BACKGROUND: A keloid is a fibrous tumor produced by fibroblast hyperproliferation and excessive collagen accumulation due to overproduction of transforming growth factor ß1 (TGF-ß1). High keloid incidence is found among individuals with unexposed skin, especially in Negroid and Mongoloid people with high melanin contents in their skin. Because melanin serves as an ultraviolet B (UVB) light absorber, it is assumed that lack of UVB light penetration may play a role in the keloid pathomechanism. This study aimed to evaluate the effect that UVB irradiation to monolayer keloid fibroblasts has on cell proliferation, collagen deposition, and TGF-ß1 production. METHODS: Keloid fibroblasts were isolated from five patients who underwent surgical treatment. Monolayer cultures of more than three passages of keloid fibroblast were exposed to various dosages of UVB irradiation. Cellular viabilities were measured by MTT assay. Collagen depositions were measured by Sirius Red assay for nonsoluble collagen, and TGF-ß1 production was measured by enzyme-linked immunoassay (ELISA). Data were analyzed by one-way analysis of variance (ANOVA). RESULTS: Ultraviolet B 100 and 150 mJ/cm(2) were able to suppress keloid fibroblast viabilities and collagen accumulation significantly (P < 0.01). Significant suppression of TGF-ß1 production required UVB irradiation of 150 mJ/cm(2) (P < 0.01). CONCLUSIONS: Lack of UVB skin penetration influences the keloid pathomechanism. Ultraviolet B irradiation with a minimal dosage of 150 mJ/cm(2) is a promising method of keloid prevention and treatment.

The effect of 50% glycolic acid on the percutaneous absorption of eutectic mixture of local anesthetics (EMLA): a study of the electrofulguration-induced pain.

BACKGROUND: EMLA has a slow onset due to its limited percutaneous absorption into an intact skin, while Glycolic acid (GA) has been known to have the capability of disrupting the skin barrier function. To the best of our knowledge, the effect of 50% GA on the percutaneous absorption of EMLA has not been studied previously. METHODS: The study used a two-step randomized double blind controlled trial involving 20 healthy subjects each. The first step compared the pain intensity upon applying GA and placebo for 4 minutes prior to EMLA occlusive application over time. Based on findings made in the first step, second step observation focused on the effect of occlusion on EMLA percutaneous absorption after GA application in minute 30 and 45. A second of 20 mA electrofulguration induced the pain, while modified Verbal Rating Scale (VRS) measured the pain intensity. RESULTS: Significant VRS difference (P < 0.05) between GA and placebo group was found in minute 15, 20, 30 and 45. However, no significant VRS difference was found after minute 60 (P = 0.420). Adequate cutaneous analgesia was achieved in minute 30 in the treatment (GA) group and in minute 45 in the placebo. There was no significant VRS difference between the occlusive and non-occlusive group in minute 30 (P = 0.214) and minute 45 (P = 0.309). CONCLUSION: Administering 50% GA prior to EMLA application enhances percutaneous absorption of EMLA, which accelerates the onset of adequate cutaneous analgesia, even without using an occlusive dressing.