Virginia P. Sybert

Aplasia Cutis Congenita: A Report of 12 New Families and Review of the Literature

Abstract: Aplasia cutis congenita (ACC) is a heterogeneous group of disorders whose common characteristic is focal absence of skin. In the majority of instances this is limited to the scalp, although other areas of the body may also be involved. Other congenital malformations have been reported to occur with AAC; limb decects appear to be a specific association. Given our experience with AAC, we suggest a classification based on genetically distinct entities. Type I AAC is limited to the scalp. Type II involves body or scalp; IIA invoves body or limb defects. Type III is limited to the scalp or limbs. Type IV is associated with epidermolysis bullosa; type IVA is Bart syndrome. Although most reported cases have been sporasdic, there are may familial occurrences of all types of ACC. Most published pedigrees are consistent with authosomal dominant inheritance with reduced penetrance, or autosomal recessive inheritance. Careful examination of family member of affected individuals is warranted.

Severe Skin Erosions and Scalp Infections in AEC Syndrome

Abstract: Hay‐Wells syndrome is an autosomal dominant condition characterized by ankytoblepharon filiforme adnatum, ectodermal dysplasia, and cleft palate with or without associated cleft lip (AEC syndrome). Although several reported patients had eroded skin at birth and recurrent scalp infections, these are not generally regarded as major features ot the disorder. In our experience, denuded skin at birth and chronic scalp erosions complicated by infection are common features of this syndrome. Aggressive wound care in conjunction with early administration of topical or systemic antibiotics is suggested.

A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death

Abstract: Two brothers demonstrated a severe variant of trichothiodystrophy. Both had brittle hair, developmental delay with severe failure to thrive, recurrent infections, cataracts, and angioendotheliomas of the liver at autopsy. The elder died at 12 weeks, the younger at 6 months. The younger had the typical appearance of banded hair on polarizing microscopy and a low cystine content measured by ion exchange chromatography. The history, clinical findings, and basic defects of trichothiodystrophy are discussed.

Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)

Abstract: Hypohidrotic ectodermal dysplasia (HED) is a welldescribed, X‐linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males. Reports of similarly affected females have suggested autosomal recessive inheritance in some families. The evidence for two clinically identical but genetically distinct disorders is not convincing, however. In two families with X‐linked recessive inheritance of HED, the condition was severe in females. A critical review of previously reported cases of presumed autosomal recessive HED suggests that an autosomal recessive form of the condition identical to the X‐linked HED may not exist. All sporadic instances of females with classic HED should be considered to be X‐linked recessive, and counseling for X‐linked recessive inheritance as well as autosomal recessive inheritance should be given.

Proceedings of the 15th Annual Meeting of the Society for Pediatric Dermatology

The fifteenth annual meeting of the Society for Pediatric Dermatology was held in San Diego. California, hosted by Drs. Angela Castellano, Gerald Goldberg, and Ronald Hansen. The sixth annual Sidney Hurwitz lecture was delivered by Dr. Rudolf Happie of the University of Nymegen, The Netherlands. He discussed genetic mosaicism in dermatology, which he divided into X-linked and autosomal phenotypes.

Ventral Midline Blanching in the Setting of Segmental Infantile Hemangiomas: Clinical Observations and Pathogenetic Implications

Areas of blanched skin in children may be seen as an independent finding or in association with vascular birthmarks. We performed a retrospective chart review to identify and describe infants with areas of ventral midline blanching in the presence of segmental infantile hemangiomas. We identified nine full‐term infants with partial or full segmental hemangiomas and areas of midline ventral blanching. Additional ventral wall defects were seen in five patients. Six had cardiac anomalies and six had intracranial anomalies. Five were diagnosed with definite PHACE (posterior fossa, hemangioma, arterial, cardiac, and eye abnormalities) syndrome and three had possible PHACE syndrome. Eight were complicated by ulceration. Treatment varied according to the case. Ventral blanching, even in the absence of overt midline defects, can be seen in infants with segmental hemangiomas at risk for PHACE syndrome. We hypothesize that midline blanching may represent a minor manifestation of a developmental ventral defect.