Bazex Syndrome

X-linked dominant inherited syndrome characterized by follicular atrophoderma in combination with hypotrichosis, hypohidrosis, and nevoid basal cell carcinoma.

Bazex-Dupré-Christol Syndrome; Acrokeratosis Paraneoplastica; Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome; Follicular Atrophoderma-Basal Cell Carcinoma Syndrome.

First described in 1966 by A. Bazex, A. Dupré, and B Christol in six members of the same family. In 1996 A. Kidd et al. reviewed all the cases reported at that time and estimated approximately 120 identified cases from 15 kindreds. Hitherto, only described in caucasians, although a very similar disorder was described in a Japanese family.

X-linked dominant inheritance. Gene map locus Xq24-q27.

Based on characteristic clinical features of affected patients and appearance of their hairs under scanning electron microscopy. In contrast to the frequently used term follicular atrophoderma, the histologic analysis of lesions does not demonstrate skin atrophy.

Individuals have pitting or so-called multiple ice-pick marks on the dorsum of their hands, the elbow, and occasionally the face, which are present from early infancy on. Histologic studies show that these areas of pitting, which are commonly termed follicular atrophoderma, do not demonstrate atrophy. Facial basal cell carcinomas develop between the ages of 15 and 25 years. Hypotrichosis is present in all cases, and scanning electron microscopy of the hair demonstrates a flattened and twisted appearance. Some patients may show a circumscribed absence of sweat glands. Pinched nose with hypoplastic alae and prominent columella was considered another characteristic manifestation. No other systemic abnormalities are associated.

No literature on this syndrome in association with anesthesia is available. No specific anesthetic considerations are expected.

Congenital Hypotrichosis with Milia Syndrome (Hypotrichosis with Light-Colored Hair and Facial Milia): Autosomal dominant inherited syndrome with scalp hypotrichosis, facial milia, and reduction in hair shaft melanin.

Basal Cell Carcinomas with Milia and Coarse, Sparse Hair Syndrome: Basal cell carcinomas, multiple milia of face and limbs, increased sweating and facial pigmentation, sparse scalp and body hair.

Rombo Syndrome: Genetic disorder with facial follicular skin atrophy, milia and telangiectasis, absent eyelashes and eyebrows, and basal cell carcinomas later in life.