Progressive facial hemiatrophy:a complex disorder not only affecting the face. A report in a monozygotic male twin pair

Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of the skin followed by unilateral craniofacial atrophy of subcutaneous tissues, including fat, muscle and bone. Hereditary factors have been postulated to be involved in the aetiology of PFH. Yet, the occurrence of PFH in one of two identical male twins reported here makes this possibility unlikely. PFH usually occurs in the first two decades of life, and the clinical presentation resembles linear scleroderma. PFH may be complicated by autoimmune, neurological, ocular and dental disorders. Management of PFH comprises a long term follow-up of somatic disorders, and prevention of psychological problems. Treatment of PFH is symptomatic and consists of plastic surgery after the disease activity has stopped.Conclusion: The occurrence of PFH in one of a monozygotic twin pair suggests that genetic factors are not involved in its aetiology. Early diagnosis of PFH and accurate follow-up is essential to disclose the occurrence of complications.