Background
Acrokeratoelastoidosis (AKE) is a rare genodermatosis characterized by small, firm papules or plaques on the sides of the hands and feet. These nodules may result from an abnormality in the secretion or excretion of elastic material by fibroblasts in the dermis. Acrokeratoelastoidosis was first described in 1953 by Costa. [1]
Both autosomal dominant and sporadic forms have been observed. Acrokeratoelastoidosis is not congenital; it slowly arises at puberty, or sometimes later, and then remains stable. Usually, no treatment is necessary. Acrokeratoelastoidosis is similar to 2 other diseases: keratoelastoidosis marginalis [2, 3] and focal acral hyperkeratosis. [4, 5] The clinical and histologic differences among these diseases allow their distinction.
Pathophysiology
The cause of acrokeratoelastoidosis (AKE) is not known. Autosomal dominant transmission is common, but the clinical expressions vary widely. Acrokeratoelastoidosis-like lesions on the palms of patients have been noted in association with systemic or localized scleroderma, possibly due to an altered pattern of connective tissue metabolism similar to that of systemic scleroderma.
In 2003, Yoshinaga et al reported on a patient with acrokeratoelastoidosis in association with localized scleroderma. [6]
In 2002, Tajima et al found a high rate of acrokeratoelastoidosis in patients with systemic scleroderma (7 in 26 systemic sclerodermas). [7]
No other reports have confirmed these findings, and the relationship between these two diseases is not conclusive.
A possible linkage to chromosome 2 has also been proposed, [8] but further studies are needed to confirm this hypothesis.
Two cases of unilateral acrokeratoelastoidosis have been reported. [9]
Etiology
No local or systemic causes have been identified. Autosomal dominant transmission is common. Sporadic cases of acrokeratoelastoidosis (AKE) are also described. One report described a patient with endogenous ochronosis showing clinical features similar to acrokeratoelastoidosis. [10]
Epidemiology
Frequency
United States
Acrokeratoelastoidosis (AKE) is rare.
International
The eruption is rare, and when the lesions are few, acrokeratoelastoidosis often remains unnoticed. A survey of 500 consecutive elderly outpatient dermatology patients at the medical school in Puducherry, India found acrokeratoelastoidosis marginalis in 2 (0.9%) females. [11]
Sex
Women appear to be affected more frequently than men.
Age
Acrokeratoelastoidosis is not congenital. It arises at puberty or sometimes later. Some cases have been described in the pediatric dermatologic literature. [12]
Prognosis
Once present, the eruption is stable, with no adverse effects. Recurrences are common.
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Acrokeratoelastoidosis. Courtesy of William D James, MD.
