Anetoderma before development of antiphospholipid antibodies: delayed development and monitoring of antiphospholipid antibodies in an SLE patient presenting with anetoderma.

INTRODUCTION: Anetoderma is an elastolytic skindisorder that has been associated with the presenceof antiphospholipid antibodies (aPL). Patients withantiphospholipid antibody-positive anetoderma havebeen reported to develop symptoms of Graves disease,antiphospholipid syndrome, and other autoimmuneconditions. The temporal relationship, however,between anetoderma onset and the emergence ofaPL remains unclear, a clarification of which may haveimplications for the screening and monitoring ofpatients with anetoderma. CASE: Herein we report acase of a patient with systemic lupus erythematosuspresenting with anetoderma that preceded thedevelopment of aPL. The patient was found to havesubsequently developed IgM cardiolipin antibodiesat a serology follow-up approximately two years later.Conclusion and Relevance: This finding suggests thatanetoderma can precede aPL seroconversion andthat patients with anetoderma may require continuedserology monitoring. Such long-term monitoring willbe important for identifying laboratory indicationsthat may portend the development of furtherautoimmune symptoms associated with anetoderma.

Primary anetoderma with undifferentiated connective tissue disease.

Anetoderma is a rare benign elastolytic disorder that is characterized by focal loss of elastin fibers on histopathology and is often recalcitrant to treatment. We present a case of a patient with a 20-year history of pruritic and painful hyperpigmented atrophic papules clustered on the neck, axillae, inframammary folds, and right medial thigh. Although the histopathologyof her axillary lesions was consistent with anetoderma, her clinical presentation is unusual given the extent of involvement, reported pain and pruritus, and sharp demarcation of the distribution. The diagnosticuncertainty of this case led to added difficulty in management of a disease that is already notoriously difficult to treat and may significantly impact patient's quality of life.

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.

Wilson's disease in association with anetoderma.

BACKGROUND: Wilson's disease is an autosomal recessive disorder of copper homeostasis with predominantly hepatic and neuropsychiatric involvement. Anetoderma is a rare benign condition with focal damage of dermal elastic tissue. Previous reports described this skin disorder in association with prolonged D-Penicillamine therapy. CASE PRESENTATION: A 26-year-old male was referred for evaluation of asymptomatic elevation of aminotransferase levels. Investigations showed negative markers for chronic viral and autoimmune hepatitis, low ceruloplasmin level, and increased copper urinary excretion. Liver biopsy revealed chronic hepatitis with moderate activity and severe bridging fibrosis. Mutation analysis found a compound heterozygote genotype and supported a diagnosis of Wilson's disease. At the time of the primary physical exam, skin lesions were also observed, consisting of numerous white to pale papules less than 7-8 mm in diameter with central protrusion located at the upper part of the body. Primary anetoderma was established based on presentation and skin biopsy findings. Therapy with D-Penicillamine at a daily dose of 1500 mg was started, and, during 12-month follow-up, aminotransferase decreased to normal and skin lesions remained unchanged. CONCLUSION: In our opinion the case is a first reported association between Wilson's disease and primary anetoderma. The possible mechanism behind this relationship is discussed.

[Anetodermic pilomatricoma. Uncommon variant of a common childhood adnexal tumor]. / Anetodermisches Pilomatrikom. Seltene Variante eines häufigen Adnextumors im Kindesalter.

The anetodermic ("bullous") subtype is a rare variant of pilomatricoma which we diagnosed in 2 girls who were 9 and 10 years old. The tumors presented as 3 × 2 and 1.5 × 1.5 cm red dome-shaped nodules with a slightly wrinkled surface on the upper back and on the pretibial region, respectively. Both were superficially soft, but then firm as one palpated deeper. Histology showed an edematous, well-vascularized dermis resembling granulation tissue overlying a deep otherwise typical pilomatricoma. Clinical and histological characteristics of the anetodermic subtype are discussed on the basis of previously published cases.

The skin and hypercoagulable states.

Hypercoagulable states (HS) are inherited or acquired conditions that predispose an individual to venous and/or arterial thrombosis. The dermatologist can play a vital role in diagnosing a patient's HS by recognizing the associated cutaneous manifestations, such as purpura, purpura fulminans, livedo reticularis, livedo vasculopathy (atrophie blanche), anetoderma, chronic venous ulcers, and superficial venous thrombosis. The cutaneous manifestations of HS are generally nonspecific, but identification of an abnormal finding can warrant a further workup for an underlying thrombophilic disorder. This review will focus on the basic science of hemostasis, the evaluation of HS, the skin manifestations associated with hypercoagulability, and the use of antiplatelet and anticoagulant therapy in dermatology.