The enigma of periorificial desquamating lesions in a child
Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index of suspicion in childhood diseases with perio...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2023-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index of suspicion in childhood diseases with periorificial desquamation can lead to timely detection and active intervention in BD. |
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| Item Description: | 2229-5178 10.4103/idoj.idoj_322_22 |