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CUTIS VERTICIS GYRATA NEVOIDE
No full textA 23-year-old man first noticed the formation of ridges and furrows on his vertex and parietal regions 5 years prior to presentation. There were no color change or evidence of inflammation. The hairs were thinned and sparse over the surface of the folds. Family history was negative for similar conditions. The patient was of normal intelligence. Findings of the physical examination, including neurologic examination, skull X-rays, and other laboratory investigations were within normal limits. A skin biopsy revealed thickening of the dermis with an increased size of collagen bundles rich in fibroblasts. Some pilosebaceous adnexa were malformed. In addition there were small groups of nevocytic cells, clearly identified only with S-100 protein immunoreactivity. Cutis verticis gyrata (CVG) can be classified as primary or secondary. Primary CVG usually is associated with neuropathic diseases. Secondary CVG can be associated with systemic diseases or caused by other disorder of the scalp especially by cerebriform intradermal nevus. In our case CVG is secondary to a complex hamartoma of the skin in which different embriologically distinct cellular lines are represented
Sindrome di Rapp-Hodgkin. Espressivita fenotipica diversa in membri della stessa famiglia
No full textA 23-year old woman with narrow nose, maxillary hypoplasia, cleft lip and palate, hypodontia, dystrophic nails and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination of hair showed longitudinal twisting at irregular intervals, typical of pili torti. Her mother presented only dystrophic nails and hypohidrosis. Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies and cleft lip and palate. In the patients observed, the phenotypical manifestations were different. In fact, the proband showed all the major features of the syndrome, while her mother only onychodysplasia and hypohidrosis. The differential diagnosis between Rapp- Hodgkin syndrome and other forms of ectodermal dysplasia are discussed.
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