Presentation
or cerebrovascular disease presenting as stroke or transient ischemic attack. [ncbi.nlm.nih.gov]
Although the clinical manifestations are varied, mental retardation and neurologic disorders are present in practically all patients. [pubmed.ncbi.nlm.nih.gov]
[…] cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. [escholarship.org]
[…] according to their clinical characteristics. [2] The localized form includes: (1) The solitary papular type, which can manifest on any body part as a single lesion; (2) the Fordyce type, which occurs on the scrotum or the vulva; (3) the Mibelli type, which presents [ijdvl.com]
Workup
Gene mutational analysis was only performed in two reported cases. [1],[7] Our case received complete workup for all related lysosomal storage disease and gene mutational analysis. Familial occurrence strongly suggests a hereditary disease. [ijdvl.com]
Treatment
Although patients with angiokeratomas may present for treatment of itching, bleeding, or superinfection (as in our patient), they seek treatment because of cosmetic concerns. [escholarship.org]
Pulmonary Arteriovenous malformations: evaluations with CT of the chest before and after treatment. Radiology, 182 (1992), pp. 809-816 [12.] J. Remy, M. Remy-Jardin, F. Girand, L. Wattine. [archbronconeumol.org]
Prognosis
PMID: 28154499Free PMC Article Prognosis Fred HL, Thangam M Tex Heart Inst J 2016 Dec;43(6):472-557. Epub 2016 Dec 1 doi: 10.14503/THIJ-16-6085. [ncbi.nlm.nih.gov]
Pulmonary arteriovenous fistula: diagnosis and prognosis in noncompliant patient. Am Rev Respir Dis, 100 (1969), pp. 177-188 [9.] J.R. Gossage, G. Kang. Pulmonary arteriovenous malformations. A state of the art review. [archbronconeumol.org]
Etiology
Abnormality of the cardiovascular system Arteriovenous fistula Abnormality of the integument Fabry disease Hyperhidrosis Growth abnormality Hemihypertrophy Etiology Acta Dermatovenerol Croat 2021 Dec;29(3):169-170. [ncbi.nlm.nih.gov]