Rare Inherited Skin Disorder Initially Misdiagnosed as Psoriasis

Presenter: Sarah Hocker, D.O. and Lauren Dozier, D.O.
Dermatology Program: Larkin Community Hospital, South Miami, FL
Program Director: Stanley Skopit, DO, MSE, FAOCD, FAAD
Submitted on: Oct 5, 2017

CHIEF COMPLAINT:  A 12-year-old male with a history of blindness in his left eye, presented to our clinic for evaluation of an itchy, scaly rash on his body, face, and scalp.

CLINICAL HISTORY:

Signs and symptoms:  The patient states that the rash had been present for 5 years now, and is worsening. He admits to itching but denies pain. The patient reports previously seeing a dermatologist a few years ago that performed two punch biopsies that came back as severe plaque psoriasis. He denies a family history of a similar rash.

 

Previous Treatment:  He tried lactic acid creams, urea cream, numerous topical and intralesional corticosteroids and pimecrolimus.

Other information:

PHYSICAL EXAM:

Generalized verrucous plaques with thick spiny scales on the scalp, face, and back. Fingernail pitting present.




LABORATORY TESTS:

DERMATOHISTOPATHOLOGY:

Hyperkeratosis, parakeratosis, and papillomatosis with acanthosis.

DIFFERENTIAL DIAGNOSIS:

1.   Ichthyosis Hystrix
2.   Psoriasis
3.   Epidermolytic Ichthyosis
4.   Erythrokeratodermia variabilis
5.   Epidermolytic palmoplantar keratoderma