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”
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.
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.
Serum lipoprotein electrophoresis- normal pattern
Peripheral blood fluorescent in situ hybridization (FISH) study- steroid sulfatase deficiency
Microscopic description: Thickened and compact hyperkeratosis and hypergranulosis
1. Ichthyosis vulgaris
2. X-linked ichthyosis
3. Lamellar ichthyosis
5. None of the Above