Are You Confident of the Diagnosis? Characteristic findings on physical examination The epidermal nevus syndrome encompasses a heterogeneous group of disorders characterized by wide-spread whorls or bands of epidermal or appendageal cell types associated with one or more systemic abnormalities, with the central nervous system, eyes, and skeleton being most frequently involved. The cutaneous lesions…
Are You Confident of the Diagnosis? What to be alert for in the history Epidermal nevi are typically diagnosed by their characteristic clinical appearance and supporting history. An epidermal nevus is a hamartoma of the epidermis and papillary dermis that is present at birth or typically appears within the first year of life. Occasionally, epidermal…
Are You Confident of the Diagnosis? What you should be alert for in the history Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous vascular malformation defined by persistent reticulate erythema (cutis marmorata). It may present with a variety of congenital anomalies, most commonly hypoplasia or hyperplasia of the affected limb. CMTC invariably presents at birth…
Are You Confident of the Diagnosis? Infantile digital fibromatosis presents as a single or multiple asymptomatic nodules that are usually located on the extensor surfaces of the phalanges of the fingers or toes, with notable sparing of the thumb and great toe. Infantile digital fibromas may be either present at birth or arise spontaneously in…
Are You Confident of the Diagnosis? What you should be alert for in the history The clinical diagnosis of harlequin ichthyosis is supported by a history of premature birth, encasement of the neonate in a hard, armor-like shell of thickened stratum corneum, ectropion and eclabium in all affected infants. Characteristic findings on physical examination Characteristic…
