Diffuse Scaling over Trunk, Neck and Extremities

Presenter: Tara H. Lawlor, D.O.
Dermatology Program: Lehigh Valley Hospital-Muhlenberg/PCOM
Program Director: Stephen Purcell, D.O.
Submitted on: Apr 29, 2005

CHIEF COMPLAINT:  “Dry skin all my life”

CLINICAL HISTORY:

Signs and symptoms:  Diffuse scaling over trunk, neck and extremities

Previous Treatment:  Over the counter emollients (Eucerin®)

Other information:  Patient has a nephew with similar skin findings. His birth history was unremarkable with no prolonged labor or failure to progress and he had no history of undescended testes. Urology and ophthalmology exams were both within normal limits.

PHYSICAL EXAM:

On physical exam you can appreciate diffuse, adherent, plate-like brown scales on the trunk and extensor extremities with involvement of the neck as well as sparing of the palms and soles.

 

LABORATORY TESTS:

Serum lipoprotein electrophoresis- normal pattern
Peripheral blood fluorescent in situ hybridization (FISH) study- steroid sulfatase deficiency

DERMATOHISTOPATHOLOGY:

Microscopic description: Thickened and compact hyperkeratosis and hypergranulosis

DIFFERENTIAL DIAGNOSIS:

1.   Ichthyosis vulgaris
2.   X-linked ichthyosis
3.   Lamellar ichthyosis
4.   Xerosis
5.   None of the Above


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