Presenter: Tara H. Lawlor, D.O.
Dermatology Program: Lehigh Valley Hospital-Muhlenberg/PCOM
Program Director: Stephen Purcell, D.O.
Submitted on: April 29, 2005
CHIEF COMPLAINT: “Dry skin all my life”
CLINICAL HISTORY: Patient presented with concerns of dry skin and diffuse scaling on trunk, neck and extremities. He has tried over the counter emollients (Eucerin®). The 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. Urologic and ophthalmologic 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:
Thickened and compact hyperkeratosis and hypergranulosis
DIFFERENTIAL DIAGNOSIS:
1. Ichthyosis vulgaris
2. X-linked ichthyosis
3. Lamellar ichthyosis
4. Xerosis
