In rare forms of ppk, organs other than the skin may also be affected. Palmoplantar keratoderma genetic and rare diseases. This chapter provides a practical overview of keratoderma, and is set out as below. Diffuse ppk develops at birth or shortly thereafter and. Some individuals are better classified as having porokeratosis palmaris et plantaris disseminata, in which. Punctate palmoplantar keratoderma type i genetic and rare. There are many forms of keratoderma which is the term given to the development of harmless skin thickening on the soles, particularly the heels. Without the assistance of an expert, many people may miss diagnose the issue and try to self medicate. Keratoderma definition of keratoderma by the free dictionary. Keratoderma blennorrhagicum pictures, symptoms, treatment.
He noted the condition was characterized by the development of hyperkeratotic patches occurring primarily in pressure areas of menopausal women. In a large 7generation tunisian ppkp kindred that originated from saudi. A possible familial association of punctate kertoderma and gastrointestinal malignancy. If a person has questions or concerns regarding keratoderma, ask an expert for medical insight. Punctate palmoplantar keratoderma brauerbuschke fischer. Punctate ppk presents as asymptomatic, tiny, hyperkeratotic punctate papules on the palmoplantar surface.
In 3 ethnically diverse, 4generation families segregating punctate palmoplantar keratoderma type i, martinezmir et al. Are there any treatments available for punctate keratoderma. Palmoplantar keratoderma an overview sciencedirect topics. Simple keratodermas diffuse palmoplantar keratodermas. Spiny keratoderma of the palms and soles sciencedirect. Punctate palmoplantar keratoderma type i, also called keratosis punctate palmoplantaris type buschkefisherbrauer, is a rare autosomal dominant hereditary skin disease characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. Two unrelated patients had numerous palmoplantar music box spine keratotic plugs and pits of 11 and years duration. The type 1 punctate palmoplantar keratoderma brauerbuschkefischer syndrome pkk 1 is a rare genodermatosis with a prevalence estimated at 1. Mim175860 horny papules over the palms, soles, and digits that develop central plugs. Sir, the term spiny keratoderma is used for a dermatosis, presenting with multiple keratotic protrusions that resemble music box spines, and located on palms and soles. In focal palmoplantar keratoderma, usually only pressure or friction points are affected.
Such lesions tend to be present by early adulthood. Guttate hypopigmentation and punctate palmoplantar keratoderma. Buschkefischer syndrome buschkefischer syndrome is an autosomal dominant disorder characterized by multiple punctate keratoses over the entire palmoplantar surfaces 21. Keratosis punctata palmoplantaris kppp is a rare genodermatosis with an autosomaldominant pattern of inheritance. Palmoplantar keratoderma secondary to uterine cancer is rare. Punctate palmoplantar keratoderma punctate palmoplantar keratoderma is often familial, where it tends to be inherited as an autosomal dominant trait. The exact etiology of the disorder is not known but a dual influence of genetic and environmental factors may trigger the disease. Keratoderma is often an inherited condition, typically affecting the palms and soles of the hands and feet. The exact etiology of the disorder is not known but a dual influence of. Hormonal imbalance may play a role as well as obesity, hypertension, cold dry climates and wearing backless shoes, e. In general, epidermolytic and nonepidermolytic forms cannot be.
The keratodermas are classified into the following subgroups 506 congenital. Pdf punctate palmoplantar keratoderma brauerbuschke. Punctate porokeratotic keratoderma jama dermatology. Punctate type palmoplantar keratoderma is a type of palmoplantar keratoderma that is caused by genetic abnormalities that may be inherited in an autosomal dominant or autosomal recessive manner. Clinically there is a bilateral yellow thickening of the skin. Histologic examination revealed a compact column of parakeratosis resembling that of a cornoid lamella of porokeratotic conditions. These spiny lesions have been designated punctate keratoderma,l punctate po rokeratotic keratoderma,2, 3 porokeratosis punc tata palmaris et plantaris,4, 5 or punctate poro keratosis of the palms and soles. Acquired palmoplantar keratoderma is more likely to present in adulthood compared with inherited keratodermas which usually present in childhood.
Palmoplantar keratodermas ppks are a diverse entity of disorders that are characterized by abnormal thickening of the skin on the palms and soles. Case reports epidermolytic palmoplantar keratoderma. We report the case of a 70year old patient, with type 2 diabetes, who presents a ppk 1 since the age of 30. The skin condition is considered to be a pattern of skin findings and not a condition in itself. Kertatoderma can be inherited, acquired, and rarely, paraneoplastic ie secondary to an internal malignancy.
In general, epidermolytic and nonepidermolytic forms cannot be distinguished clinically. Jun 28, 2017 punctate palmoplantar keratoderma type i is a rare condition that affects the skin. Keratoderma treatment questions about keratoderma on. Punctate palmoplantar keratoderma type i is a rare condition that affects the skin. Keratoderma treatment questions about keratoderma on justanswer. Punctate palmoplantar keratoderma can also be secondary to previous arsenic exposure, and in this case usually appear in middle age or later. Palmoplantar keratoderma ppk is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. Spiny keratoderma also known as porokeratosis punctata palmaris et plantaris, punctate keratoderma, and punctate porokeratosis of the palms and soles is an autosomal dominant keratoderma of late onset that develops in patients aged 12 to 50, characterized by multiple tiny keratotic plugs, mimicking the spines on a music box.
Keratoderma can be inherited, acquired, and rarely, paraneoplastic ie secondary to an internal malignancy. When moisturizing rashes acquire a clearly marked white color. Findings of discrete hyperkeratotic papules on the palms and soles. Punctate keratosis causes, symptoms and treatment health. We report the case of a 61yearold woman who presented with a long history of multiple symptomatic hyperkeratotic papules on the palms and soles.
A diagnosis of type i hereditary punctate keratoderma buschkefisherbrauer disease was made. The team of scientists from astars institute of medical biology imb, in collaboration with hospitals and research centres from the uk, japan and tunisia, found that this skin disorder, called punctate palmoplantar keratoderma punctate ppk, is caused by mutations in the aagab gene. Curatolo p, mancini m, clerico r, ruggiero a, frascione p, marco pd et al. Examination revealed an important family inbreeding, a significant family history as 38 members were affected by this disease. Keratosis punctata palmoplantaris controlled with topical. Palmoplantar keratodermas foundation for ichthyosis. Acquired keratoderma is a benign skin condition, wherein there is thickening of skin keratoderma of the palms andor soles. Idiopathic acquired palmoplantar keratoderma in a patient with no. It is a subtype of punctate palmoplantar keratoderma. Palmoplantar keratodermas are a group of disorders characterized by thickening of the skin on the palms of the hands and soles of the feet of affected individuals. Music box spine keratoderma without any systemic manifestation. The condition manifests itself by lesions that appear on the skin, initially on the palm of the hands and soles of the feet. It presents with thickening of the skin of the palms andor soles which may be diffuse involving most of the palms and soles or focal localised mainly to pressure areas.
Punctate porokeratotic keratoderma is characterized by many keratotic papules on the palms and soles. Mutations in dsg1, dsg4, and dsc3 have been associated with different hair loss andor inherited skin disorders in humans. Keratoderma climactericum occurs more commonly in women of menopausal age with no personal or family history of skin diseases. Punctate keratoderma jama dermatology jama network. B nonepidermolytic keratoderma with greater thickness in sites of pressure. Paraneoplastic palmoplantar keratoderma ppk is an acquired dermatosis that presents with hyperkeratosis of the palms and soles in association with visceral malignancies eg, esophageal, gastric, pulmonary, and urinarybladder carcinomas. Punctuate keratodermas result in tiny bumps of thickened skin on the palms and soles and usually appears in late childhood. Palmoplantar keratodermas are a heterogeneous group of disorders characterized by. Type i hereditary punctate keratoderma escholarship.
Punctate palmoplantar keratoderma pppk is a rare entity with an estimated prevalence rate of about 1. Paraneoplastic palmoplantar keratoderma secondary to. Keratoderma climactericum refers to the form that occurs during the menopausal period. In punctate palmoplantar keratoderma there are tiny skin spots on the palms and soles. Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon. We report the case of a 70yearold male patient with punctate palmoplantar keratodermic lesions for more than. Pdf acquired palmoplantar keratoderma researchgate. In some cases, the presence of a positive family history is not observed. Ppk can be either acquired during the lifetime more commonly. Punctate porokeratotic keratoderma jama dermatology jama. The disease is characterized by the appearance of punctate, rounded grooves on the inner surfaces of both feet from 1 to 8 mm, that is, the areas that closely touch with shoes. Keratoderma is a skin condition that may be very uncomfortable.
A classical case of punctate palmoplantarkeratoderma. Three recent articles have described a previously unrecognized type of punctate palmoplantar keratoderma. Ppk can also be a feature of various underlying syndromes. Ppk punctate palmoplantar keratoderma acronymfinder. Haxthausen disease, also known as keratoderma climactericum, was first described in 1934 by the danish dermatologist holger haxthausen, md. Punctate keratoderma definition of punctate keratoderma. Mar 20, 2018 acquired keratoderma is a benign skin condition, wherein there is thickening of skin keratoderma of the palms andor soles. Punctate porokeratotic keratoderma ppk is manifested by multiple, small 0. The third is punctate keratoderma, which features multiple small, hyperkeratotic papules, spicules, or nodules on the palms and soles. Palmoplantar keratoderma ppk is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles hennies et al.
There was no history of similar lesions in the family. Keratoderma definition of keratoderma by medical dictionary. Punctate keratoderma definition of punctate keratoderma by. Punctate palmoplantar keratoderma and malignancy in a fourgeneration family. Epidermolytic palmoplantar keratoderma heppk hereditary epidermolytic palmoplantar keratoderma or vorners keratoderma is a rare genodermatosis first described by vorner in 1901. Dec 16, 2014 findings of discrete hyperkeratotic papules on the palms and soles. Apr 16, 2019 the third is punctate keratoderma, which features multiple small, hyperkeratotic papules, spicules, or nodules on the palms and soles. C epidermolytic keratoderma with prominent erythema at the border. Jan 06, 2019 punctate type palmoplantar keratoderma is a type of palmoplantar keratoderma that is caused by genetic abnormalities that may be inherited in an autosomal dominant or autosomal recessive manner. Current concepts in diagnosing and treating keratoderma. Punctate palmoplantar keratoderma is a form of palmoplantar keratoderma in which many tiny. This condition, which is classified as one of the three hereditary forms of punctate palmoplantar keratoderma, is an autosomaldominant condition with variable penetrance.
Dec 29, 2016 palmoplantar keratoderma ppk is a group of skin conditions characterized by thickening of the skin on the palms of the hands and soles of the feet. Palmoplantar keratodermas, also called keratosis palmaris et plantaris or ppks, are a heterogeneous group of disorders marked by an unusual thickening of the skin on the palms of the hands and soles of the feet. Case reports epidermolytic palmoplantar keratoderma vorners. Punctate palmoplantar keratoderma type i, also called keratosis punctate palmoplantaris type buschkefisherbrauer, is a rare autosomal dominant hereditary. Palmoplantar keratoderma primary care dermatology society uk. Ppk has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles lucker et al. Unlike more classic types, the clinical descriptions and photographs are typified by spiny, filiform and acuminate, seedlike, raspiform keratotic lesions. This condition, which is classified as one of the three hereditary forms of punctate palmoplantar keratoderma, is an autosomaldominant condition with variable. Punctate palmoplantar keratoderma ppk, or keratosis punctata, is a heterogeneous group of conditions characterized by small hyperkeratotic. In diffuse palmoplantar keratoderma, the skin on the palms and or soles appears thickened and may be hard, yellowish in colour.