ABSTRACT
BACKGROUND: Hepatitis C viral infection is a significant public health problem; 170 million persons are infected worldwide and the prevalence in the southern part of the United States exceeds two percent. Extrahepatic manifestations of hepatitis C viral infection are common; notably, 15-20% of patients will develop cutaneous manifestations of their disease. There are numerous dermatologic diseases associated with hepatitis C infection, including lichen planus, leukocytoclasticvasculitis, and porphyria cutaneatarda. MAIN OBSERVATION: Recently, epidemiological studies have also demonstrated an association between hepatitis C infection and the development of non-Hodgkin lymphoma, especially marginal zone B-cell lymphoma. Herein we report the unusual case of a systemic marginal zone lymphoma in a patient with hepatitis C infection presenting clinically as localized lipoatrophy. CONCLUSIONS: Lipoatrophy can be a rare and diagnostically challenging presentation of secondary cutaneous marginal zone B-cell lymphoma. The importance of early recognition and detection cannot be over emphasized, as new and effective anti-viral treatments can lead to lymphoma regression in up to 75% of patients. To our knowledge, this is the first case of hepatitis C viral infection associated marginal zone lymphoma to present as localized lipoatrophy.
ABSTRACT
Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a rare disorder characterized by ankyloblepharon (congenital adhesions of the eyelids), ectodermal dysplasia, and orofacial clefts. Here, we report the case of an infant born with severe ectodermal dysplasia including generalized neonatal erosions with scalp involvement, facial clefting but notably without ankyloblepharon. Mutational analysis of the p63 gene showed a novel heterozygous T>C nucleotide substitution on exon 14 (I597T). To our knowledge, this is a novel mutation that has not previously been reported in the pathogenesis of AEC, or other p63-related syndromes. This case further highlights the clinical and genetic heterogeneity of p63 syndromes.
