Alström syndrome with acanthosis nigricans: a case report and literature review.
Alström syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment, obesity, diabetes, hepatic and renal dysfunction. AS is caused by mutations in the ALMS1 gene, which is located at chromosome 2p13. The life span of patients with AS rarely goes beyond an age of 40 years. There is no specific therapy for AS, but early diagnosis and intervention may moderate the progression of the disease and may improve the length and quality of the patient's life. We report a 10 year-old boy presenting with Alström Syndrome and acanthosis nigricans.
Department of Dermatology, Yüzüncü Yil University Faculty of Medicine, Van, Turkey.
N
N
Akdeniz
S Gunes
SG
Bilgili
S
S
Aktar
S
S
Yuca
O
O
Calka
A
A
Kilic
M
M
Kosem
D000052:Acanthosis Nigricans / Q000175:diagnosis* / Q000235:genetics; D056769:Alstrom Syndrome / Q000175:diagnosis* / Q000235:genetics; D001706:Biopsy; D018797:Cell Cycle Proteins; D002648:Child; D003241:Consanguinity; D042241:Early Diagnosis; D006801:Humans; D008297:Male; D009887:Ophthalmoscopy; D011506:Proteins / Q000235:genetics; D012867:Skin / Q000473:pathology
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins