Congenital pachyonychia

Pachyonychia congenita (synonym: Jadassohn-Lewandowsky syndrome, congenital polykeratosis of Jadassohn-Lewandowsky) is a variant of ectomesodermal dysplasia. Inheritance is heterogeneous, autosomal recessive, sex-linked. Men are more often affected.

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Causes congenital pachyonychia

The causes and pathogenesis of pachyonychia congenita are unclear. High levels of hydroxyproline are found in the urine.

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Pathogenesis

Histological examination of the pathological area reveals significant thickening of the epithelium as a result of hyperkeratosis, intracellular edema, and parakeratosis. Dyskeratosis and inflammatory phenomena in the upper part of the dermis are possible. The inflammatory infiltrate around the vessels consists of lymphocytes and histiocytes. Acanthokeratolysis is observed.

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Symptoms congenital pachyonychia

Dermatosis begins immediately after birth or in the first days of life. The main symptom of the disease is damage to the nail plates, i.e. onychodystrophy of the hypertrophic type. The nail plates are thickened to 1 cm (pachyonychia), become dense, from yellowish to brown in color, and have longitudinal stripes on their surface. Subungual hyperkeratosis is expressed. Some patients develop paronychia. For a long time, nail damage may be the only symptom of the disease. Then other symptoms of congenital pachyonychia develop: focal, sometimes diffuse palmoplantar keratoderma, hyperhidrosis, on the skin of the trunk and limbs - follicular keratosis in the form of red cone-shaped keratotic papules, ichthyosiform rashes, hyperpigmentation, skin anomalies, etc. On the mucous membranes of the tongue, larynx, nose, foci of leukoplakia appear, damage to the cornea of the eyes is noted, leading to decreased vision. The development of dental anomalies, musculoskeletal system, pathology of the nervous, endocrine, cardiovascular systems, mental retardation are observed.

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Forms

In clinical practice, there are four types of congenital pachyonychia, which are characterized by the following symptoms:

• congenital pachyonychia, keratoderma, follicular keratosis of the trunk, leukoplakia of the mucous membranes and cornea;
• congenital pachyonychia, symmetrical keratoderma, keratosis truncus, leukoplakia of the mucous membranes;
• congenital pachyonychia, symmetrical keratoderma, follicular keratosis of the trunk; a combination of the above keratoses and pachyderma with congenital anomalies of the mesoderm (osteopathy, etc.).

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Treatment congenital pachyonychia

Treatment of congenital pachyonychia is not very successful. Long-term intake of vitamin A, riboflavin, folic acid, gelatin, and, if indicated, hormonal drugs are recommended. Aromatic retinoids have a good effect.

Externally, hot soda baths, 2-10% salicylic ointments, ureaplast, ointments with 5-10% salicylic, lactic acids, resorcinol are used to remove hyperkeratotic deposits on the hands and feet and subsequently - the use of softening ointments, cryotherapy with liquid nitrogen, electrocoagulation. Nail plates are removed using ureaplast followed by rubbing corticosteroid ointments and creams with vitamin A into the nail bed.

A good effect has been noted from the use of local retinoids (adapalene, tretinoin, etc.).