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Biomedical subjects

Gül Erkin

Publications and source records attributed to Gül Erkin.

4 recordsLinked to original sources

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome. The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia. Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes. Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5. This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis. However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development.

Child↗

In search of an optimum dose escalation for narrowband UVB phototherapy: is it time to quit 20% increments?

OBJECTIVES: Our aim was to compare 20% with 10% to 5% incremental regimens in narrowband UVB phototherapy. STUDY PATIENTS: The study included patients with psoriasis (N = 191) with Fitzpatrick skin phototypes II and III. RESULTS: Occurrence of erythema as well as maximum and cumulative doses were higher with 20% escalations, whereas response rates and time to response did not significantly differ. LIMITATIONS: The study was limited by its retrospective nature. CONCLUSION: A 5% or 10% incremental regimen may have similar therapeutic efficacy.

Erythema↗

Interstitial granulomatous dermatitis with arthritis.

Interstitial granulomatous dermatitis with arthritis is an uncommon disorder. In its original description, the presence of linear inflammatory indurations on the lateral aspects of the trunk (the rope sign) in association with arthritis were considered the pathognomonic clinical features. Later cases presenting with plaques and papules have been reported. Herein we describe a case of interstitial granulomatous dermatitis with arthritis without the rope sign. The present case supports the idea that interstitial granulomatous dermatitis with arthritis may have variable clinical appearances.

Administration, Topical↗

Cutaneous silica granuloma: a lesion that might be clinically underdiagnosed.

Cutaneous silica granuloma is a poorly understood, uncommon condition. There have been relatively few reports of cutaneous silica granuloma despite the well-known ubiquitous nature of silica in the environment. The characteristic latency period between the time of silica exposure to the time of clinical onset of granuloma, lack of clear-cut histories of exposure in most cases and likelihood of spontaneous resolution, may challenge the diagnosis. Thus, cutaneous silica granuloma might be a lesion that is often underdiagnosed. Here we describe a patient with characteristic findings of cutaneous silica granuloma.

Adult↗