Primary anetoderma in a young male involving palms, soles and the scalp: rarest of the rare.

Primary anetoderma is a rare idiopathic disease of the skin, characterized by circumscribed areas of loose skin, and loss of elastic fibers upon histopathologic examination. Two forms are traditionally distinguished, primary and secondary. Primary anetoderma occurs when there is no underlying associated skin disease, whereas the latter refers to an abnormal repair mechanism of preexisting skin lesions. We are reporting a case of primary anetoderma with lesions present all over the body, including the scalp, palms and soles, the sites that are not known to be involved in this condition.

What was known?

Anetoderma is a rare disorder, mostly seen in women with characteristic lesions of circumscribed areas of loose skin, sparing the palms, soles and the scalp.

Introduction

The term anetoderma refers to a circumscribed area of slack skin associated with a loss of dermal substance on palpation and a loss of elastic tissue on histological examination.[1] In the past, cases of primary anetoderma were divided into the Jadassohn-Pellizari type, in which the lesions are preceded by erythema or urticaria, and the Schweninger-Buzzi type, in which there are no preceding inflammatory lesions. This is now of historical interest only, because in the same patient some lesions may be preceded by inflammation and the others may not, and the prognosis and histology are identical in the two types.[23]

In the primary form of anetoderma, lesions appear de novo on the previously healthy skin, and they have been related to a variety of pathologies, mainly autoimmune diseases, whereas secondary anetoderma refers to an abnormal repair mechanism of preexisting skin lesions, where acne and varicella are the most frequent causes.[4]

Primary anetoderma is a rare disorder that in the most usual form develop on the trunk, thighs and upper arms, less commonly on the neck and face and rarely elsewhere. The scalp, palms and soles are usually spared.[3] We report a patient with anetoderma whose lesions were present all over the body, including the scalp, genitalia, palms and the soles.

Case Report

A 19-year-old male, worker at a gas factory, presented with the complaint of multiple, asymptomatic skin-colored lesions all over his body that developed gradually over the last one and a half years. The initial lesions were papules which gradually became flattened, thinned out and shriveled. The lesions first appeared over the axilla but gradually progressed to involve the entire body surface including the scalp, face, neck, trunk, genitalia and the limbs. There was no history of any lesions, such as those of varicella or acne present previously at the site of these lesions. The patient was otherwise in good health, and did not have any significant past history. No other family member was similarly affected.

On examination, multiple, well-circumscribed, skin colored, papules and plaques were seen, of size ranging from few millimeters to few centimeters, having a wrinkled atrophic surface which yields on pressure. The lesions were distributed bilaterally symmetrically all over the body including scalp, trunk, limbs and genitalia [Figures 1–3]. Most of the lesions formed soft sack-like projections. The plaques become flat on stretching and return to initial texture on leaving the skin lax [Figure 4]. The lesions over the face consisted of small, multiple, soft skin-colored dome-shaped papules, present more over the chin, nose and ears [Figures 5 and 6]. Multiple hyperpigmented plaques, few with central crusting were seen over the palms and soles [Figures 7 and 8]. The toenails were discolored with few black punctate spots. The rest of the physical examination was normal.

Figure 1

Bilaterally symmetrical multiple atrophic macules and plaques over the trunk and the upper limbs

Figure 3

Lesions present over the penis and the scrotum

Figure 4

Lesions become flat on stretching

Figure 5

Skin colored dome-shaped papules on the ear lobe

Figure 6

Skin colored dome-shaped papules on the chin

Figure 7

Hyperpigmented macules and few crusted plaques on both the palms

Figure 8

Hyperpigmented macules on the sole

Atrophic plaques with characteristic wrinkled surface

A punch biopsy was done to confirm the diagnosis. Histopathology of the atrophic sack-like lesion over the trunk revealed a slightly atrophic epidermis and the presence of fragmented collagenized fibers and mild edema in the dermis. There was mild perivascular infiltrate in the dermis. Verhoff-van Gieson staining revealed reduced elastic fibers [Figure 9–12]. A confirmatory biopsy from lesions over palms or soles was not done at the first visit and the patient was then lost to follow up. There was no evidence of leishmaniasis. Urinalysis, full blood count, erythrocyte sedimentation rate (ESR) and biochemical analysis were normal. Enzyme-linked-immunosorbent serologic assay (ELISA) for human immunodeficiency virus (HIV) was non-reactive and Venereal Disease Research Laboratory (VDRL) and TPHA were negative. Chest radiograph and tuberculin tests were normal. Antiphospholipid antibodies could not be done due to cost constraints.

Figure 9

H and E-stained specimen showing mild dermal inflammatory infiltrate (x10)

Figure 12

Verhoeff-Van Gieson stain showing reduced elastic fibres in the dermis (×40)

H and E-stained specimen showing mild dermal edema with fragmented collagenized fibers (×40)

Verhoeff-Van Gieson stain showing reduced elastic fibres in the dermis (×10)

Discussion

Anetoderma was first described by Jadassohn in 1892. It is characterized by localized areas of loss of substance and elastic tissue with flaccid skin, often leading to a herniation phenomenon.[2] This rare disorder occurs mainly in women aged 20-40 years, but is occasionally reported in younger and older patients of both sexes.

The usual presentation is with crops of round or oval, pink macules 0.5-1 cm in diameter over the trunk, thighs and upper arms, less commonly on the neck and face and rarely elsewhere. The scalp, palms and soles are usually spared. Each macule extends for a week or two to reach the size of 2-3 centimeters. Slowly, each lesion fades and flattens from the center outwards to leave a macule of wrinkled, atrophic skin, which yields on pressure, admitting the finger through the surrounding ring of normal skin.[5] The number of lesions varies widely, from less than 5 to 100 or more. The lesions remain unchanged throughout life, and new lesions often continue to develop for many years.[3]

Along with the characteristic lesions, the diagnosis of certainty of anetoderma is done upon a finding of elastolysis and elastorrhexis mainly affecting papillar and frequently reticular dermis by elastic fiber stain on histopathology. The remaining fibers, in addition to be fragmented, adopt a characteristic tortuous and thinned-out aspect.[2]

The pathogenesis of anetoderma remains unknown, despite many reported associations and causes. Loss of elastic fibers may be explained by defective synthesis, increased activity of elastolytic enzymes, or autoimmune-mediated destruction of fibers.[6]

Venencie et al.[7] suggested that the degradation of elastic fibres in patients with anetoderma is caused by enhanced expression of progelatinases A and B and production of the activated form of gelatinase A, and that the lack of control of these enzymes by tissue inhibitors of metalloproteinases is probably a key factor in the development and duration of anetodermic lesions. Ghomrasseni et al.[8] conducted a study to determine the amount of elastic fibers from lesional and healthy skin areas of five patients with anetoderma by automated image analysis and concluded that there exists an altered balance in anetodermic patients between MMP-2 and TIMP-2. Levels of MMP-9, MMP-3, and MMP-7 were significantly higher in the culture-conditioned media of the anetodermic skin samples than the nonlesional skin cultures.

Our patient presented with characteristic herniating lesions all over the body for the last one and a half years. Along with the usual sites, there was involvement of the scalp, palms and soles, an occurrence which has not been noted earlier. He did not have any history of preceding skin disease before the development of the lesions that is why diagnosed as a case of primary anetoderma, which was later confirmed by histopathology.

Aghaei et al.[9] have reported a case of anetoderma developing at distal extremities, but without involvement of proximal extremities or the trunk.

Primary anetoderma can be inherited, but it has also been described in association with prematurity, lupus erythematosus, antiphospholipid syndrome, and with decreased serum levels of alpha-1-antitrypsin.[10]

Differentiation of anetoderma from other elastic tissue disorders that mimic the herniation phenomenon seen clinically requires the combined clinical and microscopic appearance of these lesions for diagnosis.[11] In mid-dermal elastolysis, larger and more diffuse areas of skin wrinkling with loss of elastic fibers in the mid-dermis, with only a rare lymphohistiocytic inflammatory infiltrate present around adnexal vessels is seen,[12] whereas cutis laxa manifests as wrinkled folds or lax skin in large areas, and biopsies show a significant loss of elastin throughout the entire dermis.

Penicillin and the antifibrinolytic drug ε-aminocaproic acid have been advocated for the treatment of this condition.[13] Penicillin has not only been implicated as a therapeutic option but also as an etiological agent for anetoderma as demonstrated in a recent case report.[14] Colchicine may prevent some atrophic changes.[15] However, according to the study conducted by Venencie et al.,[3] no treatment was found to be affective for the treatment of anetoderma.

Recently, a case report by Cho et al. mentioned the role of CO2 fractional laser in a patient who developed anetoderma after resolution of Steven-Johnson syndrome.[16] The role of radiofrequency ablation has also been advocated by some authors as given the strictly dermal pathology without epidermal change in the setting of anetoderma, nonablative fractional RF technology may represent a beneficial treatment with little downtime if it is able to increase dermal protein content. Future studies may help to assess this device as a treatment option. Other modalities which are potential therapeutic options for anetoderma are dermabrasion, trichoroacetic acid peels and fillers.[14]

Conclusion

Primary anetoderma is a rare entity, with only a few cases having been reported in the past. The occurrence of lesions of anetoderma in our patient over the palms, soles and scalp, makes our case even rarer since these are sites which are known to be spared in this condition. Hence, this case is being reported as rarest of the rare.

What is new?

Primary anetoderma usually spares the scalp, palms and soles and is seen in women. In this case there was extensive involvement of these sites in a young male.