Presenter: Kate Chilek, DO

Dermatology Program: Ohio University/O’Bleness Memorial Hospital

Program Director: Scott Drew, DO & Mary Beth Luca, DO

Submitted on: April 28, 2010

CHIEF COMPLAINT: “poor hair growth”

CLINICAL HISTORY: 3-year-old female presented for the evaluation of “poor hair growth.” She was born with the dark blonde scalp hair, which fell out by 3 months of age. She re-grew some hair, but it was never substantial. Otherwise healthy, with normal growth and development. No history of prior treatments. The patient’s younger brother appears to have similar conditions but has not been diagnosed. No known familial disorders. Parents are unrelated.

PHYSICAL EXAM:
Normal nails, dentition, eyebrows, and eyelashes. Involving much of the scalp are light blonde, vellus hairs. Some fine, follicular distributed papules on the scalp.

LABORATORY TESTS:

Lead level, vitamin D level, and thyroid studies WNL. Direct microscopy of scalp hair revealed no structural or hair shaft abnormalities. Cytogenetics report revealed a normal female karyotype: 46,XX.

DERMATOHISTOPATHOLOGY:

Scalp biopsy was declined by parents due to the potential for psychological trauma to the patient. Replacement of mature hair follicle structures by follicular cysts filled with cornified material is characteristically seen on scalp histology.

DIFFERENTIAL DIAGNOSIS:

1.   Alopecia universalis
2.   Atrichia with papular lesions
3.   Alopecia totalis
4.   Vitamin-D-dependent rickets
5.   Alopecia areata