Korean J Pathol.  2011 Jun;45(3):322-325. 10.4132/KoreanJPathol.2011.45.3.322.

Sporadic Cutaneous Keratocyst without Nevoid Basal Cell Carcinoma Syndrome: Report of 1 Case

• Lee HW
• Park JY
• Kang SH
• Choe M

• KMID: 1443742
• DOI: http://doi.org/10.4132/KoreanJPathol.2011.45.3.322

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.

Keyword

Keratocysts; Nevoid basal cell carcinoma syndrome; Skin

MeSH Terms

Basal Cell Nevus Syndrome
Carcinoma, Basal Cell
Epithelium
Female
Foot
Hand
Humans
Jaw Cysts
Keratins
Middle Aged
Odontogenic Cysts
Parakeratosis
Penetrance
Skin
Keratins