Anetoderma arising in Reed syndrome: a case report and review of the literature

Abstract

Anetoderma is a cutaneous disorder characterized by loss of dermal elastic tissue resulting in papules from herniation of subcutaneous tissue or circumscribed areas of atrophic, wrinkled skin. Familial leiomyomatosis cutis et uteri (Reed syndrome) is an autosomal dominant disorder characterized by cutaneous and uterine leiomyomas. We report a 23-year-old male with Reed syndrome who presented with asymptomatic pearly white, atrophic, flaccid papules on the upper back and shoulder that depressed when palpated. Pathologic examination showed an unremarkable epidermis and central loss of dermal elastin, bordered by clumped elastin, as revealed with an elastin stain. The correlation of clinical and pathologic findings indicated a diagnosis of anetoderma arising in a patient with Reed syndrome.

Anetoderma Associated With a Succinate Dehydrogenase Gene Mutation

“…Little is known about the specific pathophysiologic processes underlying anetoderma. Reports of genetic defects associated with anetoderma are uncommon, but notably include Reed syndrome . In combination with this knowledge, the present report of an SDHB gene mutation associated with anetoderma suggests a possible link between these consecutively acting citric acid cycle mutations and the development of anetoderma.…”

“…Rarely, anetoderma can be acquired genetically. Anetoderma has previously been described in association with Reed syndrome, an autosomal dominant disorder caused by an underlying citric acid cycle mutation in fumarate hydratase (FH) and characterized by cutaneous and uterine leiomyomas . Herein, we present a case of anetoderma associated with a mutation in succinate dehydrogenase subunit B (SDHB), affecting the enzymatic step in the citric acid cycle immediately preceding FH.…”

Ultrastructural aspects of primary anetoderma

“…It is a rare disorder, mostly seen in women aged 20 to 40 years. The size of lesions ranges 0.5 to 2.5 cm in diameter and appear predominantly in the cervical region, upper limbs and trunk …”

“…In the primary form, lesions appear spontaneously on clinically normal skin, without any preceding dermatosis, and, despite its unclear pathogenesis, some authors report the association with autoimmune diseases . Familial cases are rare, with both autosomal dominant and recessive inheritance reported . Secondary anetoderma is preceded by inflammatory, infectious or neoplastic conditions and may be related to an abnormal repair mechanism of injured skin …”

Acquired Disorders of Collagen and Elastin

“…pilomatrixoma. An association of anetoderma with autoimmune diseases (latent thyroiditis, lupus erythematosus, Sjögren' syndrome, antiphospholipid syndrome), B-cell and Hodgkin's lymphoma, HIV, Wilson's disease, and Reed syndrome has been described in the literature (Ivanova et al 2015;Jeong et al 2014;Velez et al 2015). Possible causes include misregulated elastin synthesis, uncontrolled release and activation of elastases, and other serine or matrix metalloproteases or phagocytosis of elastic fibers.…”