Japanese familial anetoderma: A report of two cases and review of the published work.

Anetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue, resulting in macular atrophy or herniated saclike skin. Some families with hereditary anetoderma have been described, but there have been no reports on Japanese familial anetoderma so far. We herein report two Japanese sibling cases of primary anetoderma. A healthy 13-year-old Japanese girl and a healthy 15-year-old Japanese girl presented to our hospital with a 6-month history of small atrophic pittings on their arms and trunks. All lesions were less than 0.5 cm in diameter, which are relatively small for non-familial anetoderma. Preceding infections or skin lesions were not observed. A skin biopsy revealed a focal, complete loss of elastic tissue in the superficial to mid-dermis which was surrounded by fine, irregular or twisted elastic fibers. Based on these findings, the diagnosis of anetoderma was made. Review of published works demonstrated that the mode of inheritance of familial anetoderma is not simple, suggesting that it is important to survey any family member of the patients with anetoderma.

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent studies have identified a FLNA c.5217G>A mutation as the cause of TODPD, allowing for diagnostic genetic testing. We present a case of molecularly confirmed TODPD in a girl with the 47,XXX chromosomal complement and deformities of the hands and feet, craniofacial abnormalities, and discolored, linear facial lesions. Skin biopsy of the patient's facial lesion revealed absent papillary dermal elastic fibers, consistent with anetoderma, which contrasts with the dermal hypoplasia described in the only other such facial biopsy reported in the literature. The finding of absent elastic fibers in the skin lesions suggests that mutated filamin A, in part, exerts its effects through dysregulated elastin biology, which may explain the nature of many connective tissue pleotropic effects in FLNA-related disorders.

Familial anetoderma: a report of two families.

Anetoderma is a rare cutaneous disorder where a localized dermal defect of elastic fibers determines depressed areas and often herniated saclike skin. Primary anetoderma is an idiopathic phenomenon while secondary anetoderma is related to various conditions. The term primary anetoderma implies that the lesions occur in clinically normal skin although they may be associated with another dermatological or systemic disease or condition, without a well established relationship. The term secondary anetoderma implies that anetoderma occurred on the same site as another skin lesion. Familial anetoderma is a very rare condition that can be associated with bony, neurological and ocular anomalies. Recently some families with familial anetoderma have been described, where the disease seems to be limited to the skin. The pathogenesis for familial anetoderma is still unclear. It has been reported in only 10 families and in the first 4 reported families, anetoderma was always associated with extra-cutaneous abnormalities, while in the remaining 6 families, all described in last three decades, anetoderma was limited to the skin. We report here another two families with anetoderma without any associated disease and we review the literature on familial anetoderma.