Acrokeratosis verruciformis is a rare

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

disorder appearing at birth or in early childhood, characterized by

skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this ...

s that are small, verrucous, flat

papule A papule is a small, well-defined bump in the skin lesion, skin. It may have a rounded, pointed or flat top, and may have a umbilication, dip. It can appear with a Peduncle (anatomy), stalk, be thread-like or look warty. It can be soft or firm a ...

s resembling warts along with palmoplantar punctate keratoses and pits. However sporadic forms, whose less than 10 cases have been reported, presents at a later age, usually after the first decade and generally lack palmoplantar keratoses. Whether acrokeratosis verruciformis and Darier disease are related or distinct entities has been controversial, like

Darier's disease Darier's disease (DD) is a rare, genetic skin disorder. It is an autosomal dominant disorder, that is, if one parent has DD, there is a 50% chance than a child will inherit DD. It was first reported by French dermatologist Ferdinand-Jean Darier ...

, it is associated with defects in the

ATP2A2 ATP2A2 also known as sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (SERCA2) is an ATPase associated with Darier's disease and Acrokeratosis verruciformis. This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps loca ...

gene. however the specific mutations found in the ATP2A2 gene in acrokeratosis verruciformis have never been found in Darier's disease.

Signs and symptoms

Clinical signs of acrokeratosis include verrucous plaques and flat-topped, polygonal

papules A papule is a small, well-defined bump in the skin. It may have a rounded, pointed or flat top, and may have a dip. It can appear with a stalk, be thread-like or look warty. It can be soft or firm and its surface may be rough or smooth. Some ...

. The lesions range in hue from brown to skin tone, and their friction might cause vesicles. The backs of the hands and feet's proximal and distal interphalangeal joints are typically where the lesions are seen. Lesions are less common and only occasionally seen on other body parts. The frontal scalp, flexures, and

oral mucosa The oral mucosa is the mucous membrane lining the inside of the mouth. It comprises stratified squamous epithelium, termed "oral epithelium", and an underlying connective tissue termed '' lamina propria''. The oral cavity has sometimes been des ...

are not affected by the condition. On the palms and soles, punctate keratosis is another symptom of the illness. Changes to the nails, such as thickening of the nail plate,

leukonychia Leukonychia (or leuconychia) is a medical term for white discoloration appearing on nail (anatomy), nails.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. pp. 658–59. . It is derived from the ...

, longitudinal ridges, and nicks in the free edges, are often noted.

Causes

Acrokeratosis verruciformis is caused by mutations in the

gene and is inherited in an autosomal dominant fashion.

Diagnosis

The diagnosis is established by histological characteristics such as

acanthosis The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and hypodermis. The epidermal layer provides a barrier to infection from environmental pathogens and regulates the amount of water relea ...

hyperkeratosis Hyperkeratosis is thickening of the stratum corneum (the outermost layer of the epidermis, or skin), often associated with the presence of an abnormal quantity of keratin,Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Pathol ...

, hypergranulosis without

parakeratosis Parakeratosis is a mode of keratinization characterized by the retention of nuclei in the stratum corneum. In mucous membranes, parakeratosis is normal.Kumar, Vinay; Fausto, Nelson; Abbas, Abul (2010) ''Robbins & Cotran Pathologic Basis of Disease ...

, and

papillomatosis Papillomatosis is skin surface elevation caused by hyperplasia and enlargement of contiguous dermal papillae.Kumar, Vinay; Fausto, Nelso; Abbas, Abul (2004) ''Robbins & Cotran Pathologic Basis of Disease'' (7th ed.). Saunders. Page 1230. . These p ...

, which are limited epidermal elevations referred to as "church spires."

Treatment

Superficial ablation is currently the only effective treatment available.

References

External links

DermNet

StatPearls
{{Ion pump disorders Genodermatoses