Ultrastructure of acrokeratoelastoidosis

Abstract

Editor Acrokeratoelastoidosis (AKE) is a genodermatosis characterized by small, firm papules or plaques on the sides of the hands and feet, 1 and it was first described in 1953 by Costa, in a Brazilian patient. It is a rare disease, and both autosomal dominant and sporadic forms have been observed. 2 It is characterized by multiple hyperkeratotic papules on the palms, soles and dorsum of the hands and feet. Typical histopathological findings in AKE include hyperkeratosis, acanthosis with fragmented and decreased elastic fibres in reticular dermis (elastorrhexis). 3 Electron microscopy (EM) findings in AKE are limited. A 45-year-old white woman presented with small asymptomatic palmar papules that emerged at the beginning of adolescence. These papules were waxy and in great number along the borders of the hands, but were also present in the flexures of the fingers (Fig. 1a). In detail, the dermatoglyphics were not affected (Fig. 1b), suggesting a dermal involvement. The patient had a bureaucratic job and her activities and hobbies did not require constant use of hands. The feet were not affected. She denied a positive family history. Light microscopy with HE staining showed unspecific findings with compact hyperkeratosis and marked acanthosis.

Marginal acrokeratoderma: a case series

“…Since 1990, slightly more than two dozen cases of AKE have been reported. 6,7,[21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] We reviewed twenty-four cases in the literature. The patients were also older with a median age of 36 years (range between 5 and 79 years old).…”

“…6,37 Histopathological documentation of all cases was similar to FAH while identification of decrease and fragmentation of elastic fibers was performed with Verhoeff's-van Gieson, acid orcein, aldehyde-fuchsin, Weigert staining and or electron microscopy. 36 From the review of the literature and our patients, we attempted to compare the clinical pattern/morphology and extent of palmoplantar involvement. MAK is more common in females than males, though our cases had an almost equal distribution.…”

Acrokeratoelastoidosis: is there an association between asthma and sporadic cases in children?

“…The authors declare no conflicts of interests. [11] 45 Since adolescence Sporadic None mentioned Korc [12] 36 Age 6 Sporadic None mentioned Korc [12] 39 Age 8 Familial None mentioned Barrick [13] 11 Unknown Familial None mentioned Matthews* [14] 36 Age 2 Familial Eczema Costa [15] 38 Since childhood Familial None mentioned Erbil [16] 21 Age 7 Not discussed None mentioned Uribe [4] 7 Age 7 Not discussed Asthma, allergic rhinitis Nelson-Adesokan [17] 14 Age 2 Not discussed None mentioned *Acrokeratoelastoidosis was also reported in the patient's two sons since ages 9 and 11.…”

Acrokeratoelastoidosis as an example of marginal papular acrokeratoderma with prominent elastorrhexis

“…No particular race predominance has been found so far. The electron microscope (EM) has recently proved to be a valuable tool in making the diagnosis [5]. Fragmented elastic fibres resembling rooster crests can be observed on scanning EM, while transmission EM shows decreased thickness and fragmentation of the elastic fibres, surface indentations, irregular black spots in the fibre core and normal collagen bundles.…”