Faculty Bibliography

Acanthosis nigricans in children is usually a benign condition most commonly associated with obesity. Generalized acanthosis nigricans is a very rare condition, especially in childhood. We report a 6-year-old boy with a 4-year history of generalized hyperpigmentation and velvety thickening of the skin. Despite an extensive examination, no evidence for an underlying neoplastic or endocrinologic disease was found.

Kwashiorkor, a form of severe protein-energy malnutrition that entails loss of lean body weight, occurs endemically among children in many parts of the world but also has been documented in adults. We report a case of kwashiorkor in an HIV-positive adult male. Cutaneous findings are striking, and skin, hair, and nails are affected. Although kwashiorkor occurs in patients with HIV-AIDS, the skin manifestations have not been emphasized in the dermatologic literature. Indeed, dermatologists may play a vital role in diagnosing this treatable condition.

BACKGROUND:Commonly used treatments for pyoderma gangrenosum are medical, with immunosuppressive agents employed most often. OBJECTIVE:To report a case and discuss the indications for radical surgical treatment of pyoderma gangrenosum. METHODS:Analysis of a case of Crohn's disease-associated pyoderma gangrenosum treated with immunosuppression followed by amputation, and a review of the literature on surgical management of pyoderma gangrenosum. RESULTS:In unstable patients with intractable multiple medical problems, surgical treatment of pyoderma gangrenosum may be indicated by the existence of these life-threatening comorbidities. The recent literature suggests that surgical management of pyoderma gangrenosum may also be appropriate in other special circumstances. CONCLUSIONS:Surgical management, including amputation, may have a role in the management of pyoderma gangrenosum. Further research is needed to delineate precisely the circumstances and patient factors that are appropriate indications for such surgery.

Epidermolytic hyperkeratosis (EHK) is a genodermatosis caused by mutations in either the keratin 1 (K1) or keratin 10 (K10) genes, and characterized by erythroderma and blistering at birth, with development of a ribbed, ichthyotic hyperkeratosis and palmoplantar keratoderma. A wide variety of mutations within the highly conserved helix termination motifs of the central rod domains of the K1 or K10 genes correlate with the highly variable phenotypic severity observed in EHK. We report a unique EHK-like phenotype exhibiting autosomal dominant inheritance with variable expressivity in four affected individuals in a single family. Clinically, affected individuals manifest transient blistering at birth followed by chronic diffuse palmoplantar keratoderma without transgradiens. Intermittent flares of non-migratory polycylic erythematous psoriasiform plaques which worsen and abate in severity were present in all affected individuals, but showed immense individual variation in both severity and duration, ranging from weeks to months. Histopathologic examination of the psoriasiform plaques demonstrated the characteristic features of EHK. Sequencing of the K1 gene in affected family members revealed a heterozygous A-to-T transversion at nucleotide 1435 within exon 7, converting isoleucine (ATT) to phenylalanine (TTT), (I479F). The mutation resides within the highly conserved helix termination motif of the helix 2B segment of the K1 gene. This unique clinical phenotype and the associated K1 mutation have not been previously described, and it is referred to here as EHK with polycyclic, psoriasiform plaques (EHK/PPP).

Hyperuricemia and gout are known to occur in patients receiving diuretic therapy. More recently recognized, however, is the occurrence of tophaceous gout in patients treated with cyclosporine. We report a 57-year-old man with normal renal function who was started on cyclosporine immediately after undergoing bilateral lung transplantation. Six months later, he developed progressive renal insufficiency and hypertension. In the following four months (10 months after starting his immunosuppressant medication), he presented with a symmetrical distribution of tophi on his finger pads. Seven previous cases of finger pad tophi have been reported and are reviewed.