Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

BACKGROUND: Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. Some patients may show progeroid features. MADA with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin A and lamin C (LMNA). MADA and Hutchinson-Gilford progeria syndrome are caused by the same gene and may represent a single disorder with varying degrees of severity. MAD patients characterized by generalized lipodystrophy (type B) affecting the face as well as extremities and severe progressive glomerulopathy present heterozygous compound mutations in the ZMPSTE24 gene. CASES PRESENTATIONS: We described a rare pedigree from Southern China, among them all three children presented with phenotypes of MADA associated progeria. The two elder sisters had developed severe mandibular hypoplasia associated progeria since the age of 1 year. The eldest sister showed a progressive osteolysis. The youngest son of 10 months showed severer lesions than those of his sisters at the same age, and presented possible muscle damage, and his symptoms progressed gradually. Three genes mutations including LMNA, ZMPSTE24 and BANF1 were tested in the family. LMNA gene sequencing revealed a homozygous missense mutation, c.1579C > T, p.R527C for all three siblings, and heterozygous mutations for their parents, whereas no mutations of ZMPSTE24 and BANF1 genes was detected among them. CONCLUSIONS: The same homozygous mutation of c.1579C > T of LMNA gene led to MADA associated progeria for the present family. The course of osteolysis for MADA is progressive.

Erythema associated with pain and warmth on face and ears: a variant of erythermalgia or red ear syndrome?

Erythermalgia is a rare cutaneous disorder characterized by attacking of erythema, pain and increased temperature, which primarily involves the extremities and may infrequently extend to the neck, face, ears and even the scrotum. We reported an 18-year-old woman who presented with 3 years history of sole involvement of attacking erythema, pain and warmth over her face and ears without any other associations. The frequency and severity of the flares progressed gradually during the course. Cutaneous examination revealed erythema, increased temperature and tenderness on the face and ears during the flare. The symptoms could be relieved rapidly by cooling. Dermatoscope showed that vessels inside the erythema were more dilated during the episode than after application of ice. The lesion is considered a rare variant of erythermalgia with sole involvement of face and ears. The symptoms had mild response to oral antihistamines, topical steroids and tacrolimus, but had excellent response to the combinative therapy of aspirin and paroxetins.

Cutaneous pili migrans: a case report and review of the literature.

BACKGROUND: Cutaneous pili migrans is a rare condition in which the hair shaft penetrates the superficial layer of the skin and produces a creeping eruption mimicking the lesion of cutaneous larva migrans. METHODS: We report a 28-year-old Chinese man who presented with a painful and slow-moving black, linear eruption on the left sole after walking on a waterlogged street wearing slippers without socks. RESULTS: The lesion started at the anterior part of the foot near the external border, extending linearly along Langer's line towards the lateral side. It then turned in a U-shaped direction and moved across the foot to the other side, where it made a right angle and moved along the internal side of the foot. The lesion was reminiscent of cutaneous larva migrans. Walking made the line move more quickly. Physical examination showed that there was a broken epidermis at the probable entrance and a black thin line at the advancing end of the lesion. The black line was demonstrated to be a hair shaft with a sharp head by a shallow incision of the skin and examination under a microscope. After removal of the hair, the pain disappeared and the lesion diminished immediately, leaving slight pigmentation. CONCLUSION: The broken epidermis may be one of the main reasons for the hair shaft entering the skin. The force of body motion caused movement, which was made easier by the sharp head of the hair shaft. Hair can produce an eruption reminiscent of cutaneous larva migrans.