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We describe a family with woolly hair and ulerythema ophryogenes spanning four generations. Both woolly hair and ulerythema ophryogenes have been associated with Noonan syndrome and cardiofaciocutaneous syndrome (CFC), two disorders with considerable phenotypic overlap. This family did not exhibit any of the other findings characteristic of either Noonan syndrome or CFC, similar to a previously described pedigree with hereditary woolly hair. Woolly hair elicits a broad differential diagnosis, including woolly hair nevus and several genodermatoses. Our report reviews the evaluation of woolly hair and discusses the conditions associated with this physical finding.

Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin. Objective We sought to describe a new type of complex hamartoma in patients with TSC. Methods This was a retrospective clinical and histopathologic evaluation of 6 cases. Results The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC. Limitations Genetic testing was performed in only one patient. Conclusion This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC.

Inherited epidermolysis bullosa encompasses a number of diseases, with the common finding of blister formation, after minor mechanical trauma to the skin. In some forms significant, if not eventually fatal, extracutaneous disease activity may occur. In recent years application of newer technologies has contributed substantially to an overall understanding of this collection of inherited diseases. Concurrently, many new phenotypes have been recognized, in part the result of ongoing prospective patient registries in the United States and abroad. Unfortunately, this has resulted in a massive literature that may appear to be confounded by seemingly excessive or arbitrary subdivision of epidermolysis bullosa variants. With these concerns in mind a subcommittee was established by the National Epidermolysis Bullosa Registry to summarize the current literature and to make recommendations as to the best clinical and laboratory criteria for the practical diagnosis and subclassification of patients with inherited epidermolysis bullosa.

The hereditary palmar-plantar keratodermas are a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles and distinguishable by other clinical characteristics, associated abnormalities, and mode of inheritance. We report a family with a new autosomal dominant condition with clinical similarities to mal de Meleda and Greither's disease. Biochemical characteristics before and during treatment with oral isotretinoin were typical of hyperproliferative epithelium with expression of the 48-kd keratin. Ultrastructural abnormalities were qualitatively reduced during treatment, but the abnormal keratohyaline aggregations were still seen. Clinical improvement with treatment was marked and directly correlated with dosage.