The differential diagnosis of our case of progressive hemifacial atrophy includes other forms of juvenile localized scleroderma, Barraquer-Simons syndrome
, congenital hemiatrophy, and primary hemifacial hypertrophy.
The product is a recombinant analogue of human leptin and is claimed to be the first and only licensed treatment in Europe indicated as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in (LD) patients with confirmed congenital generalised LD (Berardinelli-Seip syndrome) or acquired generalised LD (Lawrence syndrome) in adults and children 2 years of age and above; or with confirmed familial partial LD or acquired partial LD (Barraquer-Simons syndrome
), in adults and children 12 years of age and above for whom standard treatments have failed to achieve adequate metabolic control.
The Barraquer-Simons syndrome
, APL or cephalothoracic lipodystrophy, was described by the Spanish physician Barraquer in 1906 and the German physician Simons in 1911 .
Differential diagnosis in the infant include: short syndrome, neonatal progeroid syndrome, neurometabolic lysosomal storage disorder (Gaucher type 2, Krabbe disease), Russell diencephalic syndrome; in older children, Dunningan lipodistrophy, Rabson-Mendenhall syndrome, insulin-dependent diabetes mellitus; and in adults, Barraquer-Simons syndrome
, AIDS, partial lipodistrophy and Lawrence syndrome (9).