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: October 5, 2017

 

CHIEF COMPLAINT:  Itchy, scaly rash on his body, face, and scalp

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

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




 

LABORATORY TESTS: N/A

DERMATOHISTOPATHOLOGY:

Hyperkeratosis, parakeratosis, and papillomatosis with acanthosis.

 

DIFFERENTIAL DIAGNOSIS:

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

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