Congenital pachyonichia

Pahionichia congenital (synonym: Jadasson-Lewandowski syndrome, congenital polykeratosis of Jadasson-Lewandowski) - a variant of ecto-mesodermal dysplasia. Inheritance is heterogeneous, autosomal recessive, linked to the sex. Men are more often ill.

[1], [2], [3], [4], [5], [6]

Causes of the congenital pachyonihia

The causes and pathogenesis of the congenital pachyonhia are unclear. In urine there is a high level of hydroxyproline.

[7], [8], [9]

Pathogenesis

Histological examination of the pathological site determines a significant thickening of the epithelium as a result of hyperkeratosis, intracellular edema, parakeratosis. Possible dyskeratosis, inflammatory phenomena in the upper part of the dermis. Inflammatory infiltrate around the vessels consists of lymphocytes, histiocytes. Acanthokeratolysis is observed.

[10], [11], [12], [13], [14], [15], [16], [17]

Symptoms of the congenital pachyonihia

Dermatosis begins immediately after birth or in the first days of life. The main symptom of the disease is the defeat of the nail plates, i.e., onychodystrophy according to the hypertrophic type. The nail plates are thickened to 1 cm (pachyonichia), become dense, from yellowish to brown, and there are longitudinal bands on their surface. Subungual hyperkeratosis was expressed. Some patients develop paronychia. For a long time, nail damage can be the only symptom of the disease. Then develop other symptoms of congenital pachyonihia: focal, sometimes diffuse palmar-plantar keratoderma, hyperhidrosis, on the skin of the trunk and extremities - 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, foci of leukoplakia appear, there is a lesion of the cornea of the eyes, leading to a decrease in vision. The development of anomalies of the teeth, musculoskeletal system, pathology of the nervous, endocrine, cardiovascular systems, mental retardation is observed.

[18], [19]

Forms

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

• congenital pachyonihia, keratoderma, follicular tibial keratosis, mucosal leukoplakia and cornea;
• congenital pachyonihia, symmetrical keratoderma, keratosis of the trunk, leukoplakia of the mucous membranes;
• congenital pachyonihia, symmetric keratoderma, follicular torso keratosis; combination of these keratoses and pachidermy with congenital anomalies of the mesoderm (osteopathy, etc.).

[20], [21], [22], [23]

Treatment of the congenital pachyonihia

Treatment of pachyonhychia congenitally is unsuccessful. Recommended long-term intake of vitamin A, riboflavin, folic acid, gelatin, according to indications - hormonal drugs. A good effect has aromatic retinoids.

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

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