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
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
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.
Bazex A, Dupré A, Christol B: Atrophodermic folliculaire,
proliferations baso-cellulaires et hypotrichose. Ann Derm Syph
Kidd A, Carson L, Gregory DW, et al: A Scottish family with
Bazex-Dupré-Christol syndrome: Follicular atrophoderma, congenital
hypotrichosis, and basal cell carcinomas. J Med Genet
Vabres P, Lacombe D, Rabinowitz LG, et al: The gene for Bazex-Dupré-Christol
syndrome maps to chromosome Xq. J Invest Dermatol