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.

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
References in periodicals archive ?
Pachyonychia congenita, Jadassohn-Lewandowsky syndrome, palmoplantar keratoderma.
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis affecting skin, nails, hair, oral mucosae, and teeth.
Pachyonychia congenita tarda, another variant, characterized by a later onset ranging from late childhood to middle age has been described.5
Pachyonychia congenita is a rare type of palmoplantar keratoderma characterized by a triad of subungual hyperkeratosis, keratosis palmaris et plantaris and oral mucosal leukokeratosis.6 It is associated with other features like hyperkeratotic follicular papules, keratosis pilaris, hyperhidrosis of palms and soles, and hair abnormalities.
So, we made the diagnosis of pachyonychia congenita type-1 based on typical clinical and histopathological findings.
Pachyonychia congenita. Keratosis disseminata circumscripta (follicularis).
Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc.
Pachyonychia congenita with woolly hair in a 10 month old infant.
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.
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.8,9.Complications like respiratory distress due to laryngeal leucokeratosis and acroosteolysis, malignant changes in palmoplantar lesions can occur in pachyonychia congenital.7
Pachyonychia congenita with woolly hair in a ten month old infant.