Use of the frozen section ‘jelly-roll’ technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis)
Autor: | Blake Galler, Todd Kobayashi, Casey Bowen, Jason G. Arnold, Scott R. Dalton |
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Rok vydání: | 2016 |
Předmět: |
Pathology
medicine.medical_specialty Histology Congenital ichthyosiform erythroderma integumentary system business.industry Hyperkeratosis Erythroderma Dermatology medicine.disease Staphylococcal scalded skin syndrome Epidermolytic hyperkeratosis Pathology and Forensic Medicine 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Congenital ichthyosis medicine Epidermolysis bullosa Bulla (seal) business 030217 neurology & neurosurgery |
Zdroj: | Journal of Cutaneous Pathology. 43:434-437 |
ISSN: | 0303-6987 |
Popis: | Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. A thin detached skin sample ('jelly-roll') taken from a ruptured bulla on the abdomen was prepared for frozen section analysis. Characteristic findings of epidermolytic hyperkeratosis were seen which included hyperkeratosis with granular layer degeneration, vacuolization and eosinophilic globules. The 'jelly-roll' technique can be used for quick diagnosis with minimal trauma to the patient. Epidermolytic hyperkeratosis was subsequently confirmed by a biopsy fixed in formalin and by genetic testing. A novel missense mutation in KRT1 (I479N) was identified. Herein, we discuss the use of the frozen section 'jelly roll' technique for rapid diagnosis in a case of bullous congenital ichthyosis erythroderma/epidermolytic hyperkeratosis. |
Databáze: | OpenAIRE |
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