pachyonychia congenita


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pachyonychia

 [pak″e-o-nik´e-ah]
abnormal thickening of the nails.
pachyonychia conge´nita a congenital autosomal dominant syndrome primarily affecting males, characterized by increased thickness of the nails, hyperkeratosis involving the palms, soles, knees, and elbows, widespread tiny cutaneous horns, leukoplakia of the mucous membranes, and usually excessive sweating of the hands and feet; sometimes associated with development of bullae on palms and soles after trauma.

pach·y·o·nych·i·a con·gen·'i·ta

[MIM*167200]
a syndrome of ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis; the tongue is whitish and glazed owing to papillary atrophy; autosomal dominant inheritance caused by mutation in the keratin 16 gene (KRT16) on chromosome 17q or the keratin 6A gene (KRT6A) on 12q.

pachyonychia congenita

Etymology: Gk, pachy + onyx, nail; L, congenitus, born with
a congenital deformity characterized by abnormal thickening and raising of the nails on the fingers and the toes and thickening of skin on the palms of the hands and the soles of the feet. The papillae of the tongue also atrophy, causing a whitish coating over the lingual surface.
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Pachyonychia congenita

pach·y·o·nych·i·a con·gen·i·ta

(pakē-ō-nikē-ă kŏn-jeni-tă)
Syndrome of ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis; the tongue is whitish and glazed owing to papillary atrophy.
Synonym(s): Jadassohn-Lewandowski syndrome.

Jadassohn,

Josef, German dermatologist in Switzerland, 1863-1936.
Borst-Jadassohn type intraepidermal epithelioma - see under Borst
Franceschetti-Jadassohn syndrome - Synonym(s): Naegeli syndrome
Jadassohn nervus - congenital papillary acanthosis of the epidermis, with hyperplasia of sebaceous glands developing at puberty and presence of apocrine glands in nonapocrine areas of the skin. Synonym(s): nevus sebaceus
Jadassohn-Lewandowski syndrome - ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis. Synonym(s): pachyonychia congenita
Jadassohn-Pellizzari anetoderma - cutaneous atrophy preceded by erythematous or urticarial lesions of the trunk and upper portions of the extremities.
Jadassohn-Tièche nevus - a dark blue or blue-black nevus covered by smooth skin and formed by heavily pigmented spindle-shaped or dendritic melanocytes in the reticular dermis. Synonym(s): blue nevus

pachyonychia congenita

rare, congenital, autosomal-dominant disease characterized by generalized skin thickening and anhidrosis, and marked onychogryphosis of toenails and fingernails developing during babyhood
References in periodicals archive ?
Patients with pachyonychia congenita (type 2) also may have EVHC as part of their presentation, but this patient does not have nail dystrophy, focal palmoplantar tar keratoderma, follicular keratoses, or multiple steatocysts, which also are features of this condition.
Clinical and pathological features of pachyonychia congenita.
Pachyonychia congenita with woolly hair in a 10 month old infant.
The phenotypic and molecular genetic features of pachyonychia congenita.
In partnership with the International Pachyonychia Congenita Consortium (IPCC) and the PC Project (www.
There are two main types of PC recognized: (1) pachyonychia congenita type - 1 (Jadassohn- Lewandowsky type) and, (2) pachyonychia congenita type - 2 (Jackson-Lawler type).
Other rare variants include pachyonychia congenita with only nail involvement and pachyonychia tarda that is pachyonychia congenita with onset in teenage years.
Hereditary group includes epidermolytic and nonepidermolytic diffuse keratoderma, loricrin keratoderma, Mal de Meleda syndrome, pachyonychia congenita etc.
8] Another case of woolly hair associated with pachyonychia congenita, nail changes in the form of yellowish brown hypertrophy and wedge-shaped subungual hyperkeratosis of all 20 nails with natal teeth has been reported.
There was a case of pachyonychia congenita with decompensated liver disease where despite of extensive investigations the etiology of liver disease cannot be identified.