Table 1.
Case No. | Age (Years) | Gender | Onset of Phenotype |
Consanguinity | Altered Fat Distribution |
Clinical Features | Comorbidities |
---|---|---|---|---|---|---|---|
1 | 25 | M | Childhood (8 years) |
Yes | Generalised loss of fat. Palms and soles fat loss; facial fat loss | Acanthosis nigricans, prognathism, phlebomegaly, umbilical hernia, polyphagia | Type 1 diabetes, albuminuria, diabetic neuropathy, hypertriglyceridaemia, hypertension, hepatomegaly, pancreatitis, hypothyroidism, mesangial proliferative glomerulonephritis, and mucociliary dysfunction |
2 | 23 | F | Childhood (6 years) |
No | Generalised loss of fat. Palms fat loss, soles, and facial fat preserved | Acanthosis nigricans, phlebomegaly, and umbilical hernia. polyphagia | Type 2 diabetes, albuminuria, hypertriglyceridaemia, hepatomegaly, splenomegaly, and autoimmune hepatitis |
3 | 46 | F | Adulthood (35 years) |
No | Generalised loss of fat. Palms, soles preserved, and facial fat loss | Phlebomegaly | Amenorrhea, celiac disease |
4 | 65 | F | Adulthood (44 years) |
No | Generalised loss of fat. Palms, soles, and facial fat preserved |
Muscle pain | Splenomegaly, primary hypothyroidism |
5 | 44 | F | Childhood (3 years) |
No | Generalised loss of fat. Palms and soles fat loss; facial fat loss |
Acanthosis nigricans, phlebomegaly, and umbilical hernia | Type 1 diabetes, amenorrhea |
6 | 16 | M | Childhood (2 years) |
No | Generalised loss of fat. Palms and soles fat loss; facial fat preserved | Phlebomegaly, umbilical hernia | Prediabetes, primary hypothyroidism, and celiac disease |
7 | 19 | F | Adolescence (16 years) |
Yes | Generalised loss of fat. Palms and soles fat loss; facial fat loss |
Acanthosis nigricans, phlebomegaly, and hirsutism | Prediabetes, amenorrhea, and PCOS |
M: male; F: female; PCOS: polycystic ovary syndrome.