Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease.
Angiokeratoma
Fabry disease
systemic involvement
Journal
Indian dermatology online journal
ISSN: 2229-5178
Titre abrégé: Indian Dermatol Online J
Pays: India
ID NLM: 101586880
Informations de publication
Date de publication:
Historique:
entrez:
2
6
2020
pubmed:
2
6
2020
medline:
2
6
2020
Statut:
epublish
Résumé
Angiokeratomas are variable sized hyperkeratotic vascular papules that are characterized histologically by superficial dilated capillaries in papillary dermis with epidermal proliferation. They can occur as a single lesion to a generalized form (angiokeratoma corporis diffusum). Angiokeratoma corporis diffusum though initially synonymous with Anderson Fabry disease, is now known to occur in a variety of lysosomal enzyme deficiencies. We report a case of 22 year old male with angiokeratoma corporis diffusum associated with acroparesthesias, febrile episodes, sensorineural hearing loss and renal involvement. Histopathological evaluation showed characteristic ectatic blood vessels with vacuolated endothelial cells in papillary dermis. Based on the clinical evaluation and available investigations, we suspected him to be having to Anderson fabry disease. Resource constraints limited our ability to confirm our diagnosis with enzyme assay and electron microscopy. We report this unusual case in desire of re emphasizing the importance of clinical evaluation for reaching a diagnosis in a resource poor setting.
Identifiants
pubmed: 32477981
doi: 10.4103/idoj.IDOJ_136_19
pii: IDOJ-11-212
pmc: PMC7247653
doi:
Types de publication
Case Reports
Langues
eng
Pagination
212-215Informations de copyright
Copyright: © 2020 Indian Dermatology Online Journal.
Déclaration de conflit d'intérêts
There are no conflicts of interest.
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