Farber disease
A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.
Disease Alternative Name
Top Farber disease Doctors on Curofy
Top doctors who continously share their opinions on Farber disease
BHASKARA HOSPITAL
OBSTETRICIAN &GYNECOLOGIST
Kakatiya Medical College
M.D ( OB&GY )
Siddhivinayak Clinic
Lceh Gp
JLNM RAINAWARI
Consultant Pediatrics
GMC SRINAGAR
MD Pediatrics
GRH Madurai
Mbbs
Madurai Medical College
MBBS
Trending Diseases
Trending Cases
Artificial intelligence (AI) plays a significant role in medicine today and aids in investigating, diagnosing, and treating several medical conditions. Do you think AI should be a part of undergraduate training for medical students?
Dental-Insights6 Likes15 Answers- Login to View the image
Pus discharge sine 3 days *Chief Complaints* Discharging sinus track since 3 days started with boil *History* History of boil since 3 days followed with itching causing into make pouring puss *Vitals* All stable *Physical Examination* Normal sinus with puss on palpation fluctuating *Investigations* CBC Esr Crp Puss for culture sensitive all not sent poor socio economic status *Diagnosis* Infected sinus *Management* ?
Dr. Yashavardhan T M0 Like14 Answers - Login to View the image
10 year old female Rashes present since 2 days on back and one arm Itching burning Is it shingles? Plz suggest proper allopathic treatment
Dr. Shad Aman1 Like9 Answers - Login to View the image
F.25yrs. Diagnosis please.
Dr. Syam Sundar Patro2 Likes8 Answers - Login to View the image
29 Y female having B/L knee joint pain from past 3 months , no physical signs of inflammation. No history of trauma / fall , She is non obese , lean body Previous medical history Not significant Investigations Uric acid - normal X RAY knee joint AP & lat RX given VIT D3 60K Zerodol SP What
Wahib Zaidi1 Like8 Answers