Acrokeratoelastoidosis as an example of marginal papular acrokeratoderma with prominent elastorrhexis

Żychowska, Magdalena; Batycka-Baran, Aleksandra; Baran, Wojciech

doi:10.5114/ada.2019.91426

Cited by 3 publications

(6 citation statements)

References 16 publications

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“…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).…”

Section: Discussionmentioning

confidence: 99%

“…22,24,28,29 The duration between onset of lesions and presentation was quite varied, two cases had the lesions present from birth, two presented within months of onset while eleven cases had less than 10-year history. 6,21,22,[24][25][26][27][28][29][30][31]34,39,40 The ethnicity of eight cases was not given; however, African/dark-skin was reported in five of the remaining nineteen cases. 6,26,31,35,40 Family history was reported in only four cases.…”

Section: Discussionmentioning

confidence: 99%

“…6,21,22,[24][25][26][27][28][29][30][31]34,39,40 The ethnicity of eight cases was not given; however, African/dark-skin was reported in five of the remaining nineteen cases. 6,26,31,35,40 Family history was reported in only four cases. [33][34]37,38 Other co-morbidities include Crohn's disease, asthma and dystrophic nails.…”

Section: Discussionmentioning

confidence: 99%

“…One case from India had lesions on the non-weight bearing arch of the foot while an African woman had lesions on her Achilles' tendon. 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.…”

Section: Discussionmentioning

confidence: 99%

“…3,4 Whereas, few authors consider the two as distinct entities, others have suggested that they are variants of the same disorder; variation being the result of inconstant genetic expression. 1,6,7 We have noticed a handful of hereditary marginal acrokeratodermas that do not fit the morphological description of both Costa and Dowd et al 3,4 After the eighteen cases of FAH reported by Dowd et al and Blum et al in 1983 and 1987 and few cases of AKE following Costa's up until 1987, there have been a few MAK cases reported in the literature and mostly among Caucasians and Asians and rarely in Africans. 1,3,8 Review of these cases show some clinical deviations from those originally described and those seen in our dermatology clinic.…”

Section: Introductionmentioning

confidence: 93%

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Marginal acrokeratoderma: a case series

Ibekwe

Ogunbiyi

2020

Int J Res Dermatol

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<p>Marginal acrokeratoderma (MAK) are complex disorders characterized by distribution of cornified papules/plaques along the dorso-plantar and dorso-palmar junction of the feet and hands. They belong to the family of punctate palmoplantar keratoderma. No associated gene defect has been detected. There are two clinically identical types of hereditary/familial MAK; namely acrokeratoelastoidosis (AKE) and focal acral hyperkeratosis (FAH); differentiated by the presence of elastorrehexis in AKE. The aim of this article is to report MPK lesions that are not included in the familiar groupings of punctate and polygonal papules. We described thirteen cases and reviewed the literature. Average age at presentation was 24 years, age ranged from 5 to 79 years. Majority of our cases had lesions on only their feet, that of FAH had lesions on only their hands and AKE had lesions on both hands and feet. Although most lesions reported in literature with FAH and AKE were characterized as 2-5mm flesh-colored to yellowish flat-topped/polygonal, keratotic/punctate papules, coalescing into plaques, we also reported lesions that were keratotic with cracks, desquamating and cobble-stone in appearance. This case series calls for more studies on variations in clinical presentation of MAK lesions and an opportunity to revisit the genetic basis and investigate triggers of this rare disorder.</p>

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 93%

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Marginal acrokeratoderma: a case series

Ibekwe

Ogunbiyi

2020

Int J Res Dermatol

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Acquired Disorders of Dermal Connective Tissue

Fahy,

Lovell

2024

Rook's Textbook of Dermatology

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This chapter reviews acquired changes in dermal connective tissue during normal ageing and in disease processes, including photodamage. Corticosteroids are a potent cause of dermal atrophy, which may also be congenital or induced by inflammatory disorders related to morphoea. Enzymatic degradation of elastic tissue results in localised or generalised skin laxity, which resembles genetic disorders such as pseudoxanthoma elasticum and cutis laxa. In contrast, some disorders are characterised by excessive deposition of collagen or elastic tissue. Fibrosis is associated with contracture, which causes deformity and restricted movement as in palmoplantar fibromatosis. Several chemical environmental triggers induce diffuse fibrosis resembling systemic sclerosis. Keloids represent an abnormal scarring response to trauma. Finally, dermal connective tissue components may be extruded via the epidermis in perforating disorders such as elastosis perforans serpiginosa.

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A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

Zhu,

Bai,

Yan

et al. 2024

Eur J Hum Genet

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Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles and dorsal aspect of hands or feet. The causative gene for AKE remains unidentified. This study aims to identify the causative gene of AKE and explore the underlying biological mechanisms. A large, three-generation Chinese family exhibiting classic AKE symptoms was identified. A genome-wide linkage analysis and whole-exome sequencing were employed to determine the causative gene. shRNA knockdown in human skin fibroblasts and CRISPR/Cas9 knockout in HEK293T cells were utilized to assess gene functions in the progression of elastic fiber biosynthesis. The linkage analysis identified a susceptibility region between rs7296765 to rs10784618 on chromosome 12. Whole-exome sequencing confirmed a splicing mutation of 1101 + 1 G > A in the CCDC91 gene, resulting in exon 11 skipping and a subsequent 59-amino-acid-residue loss (residues L309-Q367del). Further functional analysis revealed distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-HSF cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates. There are no significant changes in Fibrillin-1 microfibril assembly and lysyl oxidase activity. The findings strongly suggest that the protein product of the CCDC91 gene plays a crucial role in elastin transport. This discovery enhances our understanding of CCDC91’s function and broadens the known pathogenic mechanisms of AKE.

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Acrokeratoelastoidosis as an example of marginal papular acrokeratoderma with prominent elastorrhexis

Cited by 3 publications

References 16 publications

Marginal acrokeratoderma: a case series

Marginal acrokeratoderma: a case series

Acquired Disorders of Dermal Connective Tissue

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis

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