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Focal Dermal Hypoplasia (focal dermal + hypoplasia)

Distribution by Scientific Domains

Medical Sciences	100%

Selected Abstracts

A boy born with multiple lesions of atrophoderma

ACTA PAEDIATRICA, Issue 3 2010
Piero Pavone
Abstract Aims:, The Atrophodermas include a large group of disorders appearing as localized or widespread depressed skin areas and characterized by underlying dermal atrophy. The present study aims to report a peculiar form of previously unreported focal dermal atrophy. Methods:, We studied over a period of 5 years a boy who manifested, since birth, multiple hypopigmented cutaneous atrophic lesions of the atrophoderma type in a mosaic distribution over the body and the legs. Results:, This boy did no develop other cutaneous or systemic stigmata except for an idiopathic thrombocytopenic purpura (ITP) manifested at age 2 years. Full serum, metabolic and infective analyses; full ophthalmological examination; ultrasound examination of the heart and internal organs; skeletal x-rays; brain magnetic resonance imaging; and DNA analysis of the PORCN (Focal Dermal Hypoplasia - FDH) gene in this boy yielded normal results. Pathological analysis of multiple skin specimens from an affected area revealed slightly reduced dermal thickness; hyperpigmentation of the basal layer; homogenized and disarrayed collagen bundles; perivascular chronic infiltrates of lymphocytes and histiocytes; and normal skin appendages. Currently, the child is healthy; he has mildly improved skin status with less-evident skin depression throughout the lesion areas and no further complication has been recorded. The histological and clinical appearance of the skin lesions and the course were against any known disorder in the group of the atrophodermas. Conclusions:, The cutaneous lesions seen in this boy represent a possibly new congenital skin disorder characterized by multiple, benign areas of focal dermal atrophy in a mosaic distribution. [source]

A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy

CLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 2 2006
R. Mallipeddi
Summary Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and mesodermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported. [source]