기저세포모반증후군과 관련 없이 발생한 피부각질낭 1예
Sporadic Cutaneous Keratocyst without Nevoid Basal Cell Carcinoma Syndrome - Report of 1 Case -
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A cutaneous keratocyst is very rare and is ordinarily associated with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome. NBCCS is a rare autosomal-dominant disorder that results from the mutation in the patched homologue 1 (PTCH1) gene located on chromosome 9q22.3, with high penetrance and variable expressivity. NBCCS demonstrates multisystem manifestations such as multiple basal cell carcinomas in early age, jaw cysts and pits of the hands and feet. Cutaneous keratocysts are characteristically lined by festooned keratinized squamous epithelium with parakeratosis. The cystic wall contains neither granular cell layer nor skin appendages. To the best of our knowledge, only two cases of cutaneous keratocysts not associated with NBCCS have been reported to date. We report one another case of a histologically confirmed cutaneous keratocyst in a 50-year-old female without a family history and clinical features of NBCCS.
Abstract
A cutaneous keratocyst is very rare and is ordinarily associated with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome. NBCCS is a rare autosomal-dominant disorder that results from the mutation in the patched homologue 1 (PTCH1) gene located on chromosome 9q22.3, with high penetrance and variable expressivity. NBCCS demonstrates multisystem manifestations such as multiple basal cell carcinomas in early age, jaw cysts and pits of the hands and feet. Cutaneous keratocysts are characteristically lined by festooned keratinized squamous epithelium with parakeratosis. The cystic wall contains neither granular cell layer nor skin appendages. To the best of our knowledge, only two cases of cutaneous keratocysts not associated with NBCCS have been reported to date. We report one another case of a histologically confirmed cutaneous keratocyst in a 50-year-old female without a family history and clinical features of NBCCS.
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