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.     

Primary anetoderma

The authors report a case of primary anetoderma in a 27-year-old black woman. Primary anetoderma is characterized by circumscribed oval plaques with overlying loose, wrinkled skin appearing as a depression or pouch-like protrusion of the skin.     

Histopathologic findings in anetoderma

We reviewed the histopathologic findings in 34 biopsy specimens from 15 patients with anetoderma. Focal loss of normal elastic fibers, necessary for the diagnosis of anetoderma, was found in all 15 cases. The persistence of fine, irregular, or twisted elastic fibers is common. A perivascular infiltrate composed of lymphocytes was found in all specimens. Plasma cells were observed in specimens from six patients, and histiocytes with some granuloma formation were found in specimens from six patients. Variations in the intensity of inflammation or in the loss of elastic tissue were not related to the clinical findings, course, or associated diseases. All anetoderma lesions appeared to have an inflammatory pathogenesis.     

Post-varicella anetoderma. 3 cases

We report three cases of typical macular atrophy which appeared during, or was noticed shortly after varicella. The three patients were children. These cases were particular in that anetoderma lesions occurred independently of the scarring varicella lesions and followed a prolonged course of their own afterwards. We were unable to classify these cases in the primary or secondary type of macular atrophy. The various dermatoses associated with macular atrophy and the numerous physiopathological hypotheses put forward concerning this entity are enumerated.     

Secondary anetoderma overlying pilomatrixomas

Five pilomatrixomas with anetodermic cutaneous changes are presented. Four large tumors revealed soft, atrophic, pink translucent skin covering a firm subcutaneous mass, and their appearance was similar to that of a keloid or hypertrophic scar. One small tumor revealed soft, slightly atrophic, reddened or purplish skin covering a firm subcutaneous mass: its clinical appearance was similar to that of a hematoma or minor infection. Histopathological examination of the skin showed atrophic and edematous changes in the dermis associated with diminished fragmented collagen and absent elastic tissue. It is supposed that the dermal atrophic appearance bears a relation to the loss of elastic fibers and the dermal edema is related to the leakage of lymphatic fluid. Both phenomena may be caused by continuous pressure from the outside, as these anetodermic pilomatrixomas were located where they were apt to be exposed to mechanical irritation.     

Myxofibrosarcoma associated with anetoderma

BACKGROUND: Association of malignant cutaneous tumor and secondary anetoderma is rare. Secondary anetoderma in myxofibrosarcoma has not been described to date. We report a case below. CASE REPORT: A 80-year-old woman presented with a 40 x 40 mm, round, flesh-colored lesion on her left buttock. Physical examination showed a soft, protuberant lesion, without firm underlying subcutaneous mass. Pathologic examination of the surgical specimen revealed a myxofibrosarcoma, with focal loss of elastic fibers in the overlying dermis. There was no evidence of systemic involvement. One year later, she developed a recurrent tumor at the same site, with similar clinical presentation, which was treated by broad excision. DISCUSSION: Secondary anetoderma is usually seen in association with cutaneous infections and benign skin tumors. An anetodermic presentation of myxofibrosarcoma has not been reported to our knowledge. Myxofibrosarcoma (formerly referred to as myxoid malignant fibrous histiocytoma) is characterized by an abundant myxoid background in at least one half of the tumor. The tumor recurs in almost two-thirds of cases and metastasizes in one-fourth. Our case confirms that a unique, acquired anetodermic lesion can reveal a malignant tumor. A large deep biopsy should be performed systematically when this variety of anetoderma is observed.     

Ultrastructural aspects of primary anetoderma

Anetoderma is a rare cutaneous disorder characterized by focal loss of dermal elastic tissue due to unknown mechanisms. Primary anetoderma develops on clinical normal skin, without any preceding dermatosis and it can be associated with autoimmune conditions. Secondary anetoderma develops on the same area of a previous disorder, such as infectious, neoplastic or inflammatory diseases. A 37‐year‐old female patient noticed for 4 years circumscribed, normochromic, asymptomatic herniated plaques on the trunk and upper limbs. Family history was negative. Only a positive antinuclear factor (ANF) test, with titer of 1:160 and nuclear homogeneous pattern was found. Light microscopy with Weigert staining showed a lessening of elastic fibers with fragmentation; the oxytalanic fibers were also affected or absent. Transmission electron microscopy showed fragmentation and granular degeneration of elastic fibers. With greater magnification, fragments similar to those seen with optical microscopy were identified. The collagen fibers did not present any alteration. The examination of the dermis with scanning electron microscopy also identified fragmentation and significant fissures of the elastic tissue, granular degeneration was also observed. With greater magnification fragmented elastic fibers were seen.     

An immunofluorescence study of primary anetoderma

Primary anetoderma (PA) has occasionally been described in association with lupus erythematosus (LE). The present study was performed to elucidate a possible causal link between PA and LE by the use of direct and indirect immunofluorescence (IF) methods. Two patients with PA were studied. Biopsy specimens were obtained from early inflammatory and atrophic anetoderma lesions and from the exposed and unexposed uninvolved skin of each patient. The pattern of immune deposits observed in one patient was indistinguishable from that which is often seen in systemic LE, and in the other patient from that which may be observed in chronic cutaneous LE. The direct IF study also showed fibrillar immune deposits in the dermis that resembled elastic fibres morphologically. The indirect IF study, however, failed to demonstrate anti-elastic fibre antibodies in the patients' sera. The results of this study and a review of the literature suggest that some cases of PA have direct IF findings similar to those of either chronic cutaneous or systemic LE. However, these findings, along with the serological findings, are insufficient to establish a diagnosis of LE in most of these PA cases.