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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Indian Dermatology Online Journal |
| Subjects: | |
| Online Access: | http://www.idoj.in/article.asp?issn=2229-5178;year=2023;volume=14;issue=2;spage=237;epage=239;aulast=Choudhary |
| _version_ | 1797824408231870464 |
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| author | Ankita Choudhary Rutvi M Pandya Rima Joshi Bela J Shah |
| author_facet | Ankita Choudhary Rutvi M Pandya Rima Joshi Bela J Shah |
| author_sort | Ankita Choudhary |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T10:38:31Z |
| format | Article |
| id | doaj.art-eb7a1f5391e84e889519367ec5924c05 |
| institution | Directory Open Access Journal |
| issn | 2229-5178 |
| language | English |
| last_indexed | 2024-03-13T10:38:31Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Dermatology Online Journal |
| spelling | doaj.art-eb7a1f5391e84e889519367ec5924c052023-05-18T05:20:17ZengWolters Kluwer Medknow PublicationsIndian Dermatology Online Journal2229-51782023-01-0114223723910.4103/idoj.idoj_322_22The enigma of periorificial desquamating lesions in a childAnkita ChoudharyRutvi M PandyaRima JoshiBela J ShahBiotinidase 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.http://www.idoj.in/article.asp?issn=2229-5178;year=2023;volume=14;issue=2;spage=237;epage=239;aulast=Choudharybiotinbiotinidaseperiorificial |
| spellingShingle | Ankita Choudhary Rutvi M Pandya Rima Joshi Bela J Shah The enigma of periorificial desquamating lesions in a child Indian Dermatology Online Journal biotin biotinidase periorificial |
| title | The enigma of periorificial desquamating lesions in a child |
| title_full | The enigma of periorificial desquamating lesions in a child |
| title_fullStr | The enigma of periorificial desquamating lesions in a child |
| title_full_unstemmed | The enigma of periorificial desquamating lesions in a child |
| title_short | The enigma of periorificial desquamating lesions in a child |
| title_sort | enigma of periorificial desquamating lesions in a child |
| topic | biotin biotinidase periorificial |
| url | http://www.idoj.in/article.asp?issn=2229-5178;year=2023;volume=14;issue=2;spage=237;epage=239;aulast=Choudhary |
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