Trichodysplasia-xeroderma syndrome

Definition

Orphanet

Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.

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Classification

Symptoms

Medical Term Other Names Description
Sparse axillary hair Little underarm hair, Sparse axillary and pubic hair, sparse to absent axillary hair, Sparse scalp, axillary, and pubic hair [more] Reduced number or density of axillary hair.
Trichodysplasia Generalized trichodysplasia Developmental dysplasia of the hair.
Absent eyelashes Aplasia of eyelashes, Failure of development of eyelashes, Atrichia of eyelashes, Agenesis of eyelashes [more] Lack of eyelashes.
Slow-growing scalp hair Scalp hair whose growth is slower than normal.
Pili torti Flattened and twisted hair Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Sparse or absent eyelashes Sparse to absent eyelashes, Partial to total absence of eyelashes
Dry skin Xerosis Skin characterized by the lack of natural or normal moisture.

Other Classifiers and IDs