Focal Dermal Hypoplasia (Goltz Syndrome): Report of Two Cases with Minor Cutaneous and Extraeutaneous Manifestations

Abstract

Two women, ages 33 and 16 years, had focal dermal hypoplasia (Goltz syndrome) with unusual, minimal clinical manifestations. The lesions consisted of patchy, atrophic, scaly, telangiectatic macules arranged in a linear pattern along Blaschko's lines, involving the anterior and lateral aspects of both legs (patient 1) and the anterolateral aspect of the left leg (patient 2). Type I partial syndactyly involving the second and the third toes in both patients was also present. The clinical and histopathologic features and diagnostic difficulties of cases of this disorder with minimal cutaneous and extracutaneous manifestations are discussed.

An Unusual Manifestation of Linear Atrophoderma of Moulin

“…The clinical features of FDH show a wide range of variability. Several cases of FDH with minimal cutaneous and extracutaneous manifestations have been described (12). Other patients with FDH and clinical ® ndings limited entirely to the skin have also been reported (13).…”

Melanocyte Stimulation in Focal Dermal Hypoplasia with Unusual Pigmented Skin Lesions: A Histologic and Immunohistochemical Study

“…Osteopathia striata (longitudinal striation of long bones) is an almost invariable feature (6,7). Considerable variability in the severity of the lesions exists, ranging from mild cutaneous manifestations (5) to lethal visceral involvement (8).…”

“…The main clinical features include atrophy and linear pigmentation of the skin, herniation of adipose cells through dermal defects, and multiple papillomas of the mucous membranes or skin. Other manifestations include digital anomalies (syndactyly, polydactyly, camptodactyly, absence deformities, dystrophic nails), oral anomalies (hypoplastic teeth), ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia, ectopia lentis), and mental retardation (2–5). Osteopathia striata (longitudinal striation of long bones) is an almost invariable feature (6,7).…”

A boy born with multiple lesions of atrophoderma

“…This was in contrast with the histological findings of slightly reduced dermal thickness in this study. In this young boy, we considered a minimal (only skin) FDH: previous FDH cases with a minimal (cutaneous) or segmental/localized involvement have been recorded so far (11–15), including affected males. However, X‐ray examination of the limbs, DNA analysis of the PORCN (FDH) gene on peripheral lymphocytes and pathological analysis of the skin specimens were against the diagnosis of FDH.…”