Title | : | Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis |
Author | : |
PRASTA BAYU PUTRA (1) Dr. dr. Sunardi Radiono, Sp.KK.(K). (2) Prof. Dr. Med. dr. Retno Danarti, Sp.KK(K). (3) |
Date | : | 1 2021 |
Keyword | : | epidermolytic ichthyosis, palmoplantar hyperkeratosis, genodermatosis epidermolytic ichthyosis, palmoplantar hyperkeratosis, genodermatosis |
Abstract | : | Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or keratin 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be confirmed by genetic testing. We present a 2-year- old girl who presented with erythematous and thick scaling skin. Her condition began at birth as multiple flaccid blisters that would easily break into erosions. There was no history of similar condition nor consanguinity within her family. Skin examination revealed diffuse erythematous skin covered with thick scales and erosion, predominantly on her face, extremities, palms, and soles. The skin histopathology examination showed diffuse parakeratosis with vacuolar and granular degeneration within granular and spinous layers along the epidermis. She was diagnosed with generalized EI with palmoplantar hyperkeratosis based on the clinical and histopathological examinations. Clinical improvement was observed after a one-month treatment with mupirocin cream, sodium bicarbonate bath, and moisturizer after bathing. |
Group of Knowledge | : | Penyakit Kulit dan Kelamin |
Original Language | : | English |
Level | : | Internasional |
Status | : |
Published
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No | Title | Action |
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1 |
Generalized epidermolytic.pdf
Document Type : [PAK] Full Dokumen
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2 |
turnitin_Generalized epidermolytic_SND.pdf
Document Type : [PAK] Cek Similarity
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View |
3 |
Retno Danarti_Bukti korespondens_Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis.pdf
Document Type : [PAK] Bukti Korespondensi Penulis
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View |