Congenital pachyonychia

Introduction to congenital thick nail disease Congenital hyperthyroidism (pachyonychia congenita) is a rare form of hypertrophic inherited hereditary skin disease, first named by Jadassohn and Lewandowsky in 1906. Classification: usually divided into four types, type I is the most common, Jadassohn-Lewandowsky syndrome; type II is Jackson-Sertoli syndrome; type III is also known as Schaferer-Branauer syndrome; type IV is also known as delayed type congenital thick armor (pachyonychiacongenitatarda). basic knowledge The proportion of illness: the incidence rate is about 0.004%-0.005% Susceptible people: infants and young children Mode of infection: non-infectious Complications: leukoplakia

Causes of congenital thick nail disease

(1) Causes of the disease

For autosomal dominant diseases, the pathogenesis is still not clear.

(two) pathogenesis

For autosomal dominant genetic disease, type I is associated with mutations in keratin 16 and 6a, and type II is associated with mutations in keratin 17 and 6b.

Congenital thick nail prevention

There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.

Congenital thick nail complications Complications, leukoplakia

Mucosal leukoplakia is more common in the tongue and mouth, occasionally involving the throat, causing hoarseness.

Congenital thick nail symptoms Common symptoms Nail insertion into the palm of the hand, hyperkeratosis, cysts, scaly keratinized leukoplakia

The characteristic manifestation of type I congenital thick nail disease is that the nail is significantly hypertrophied, the palmar keratosis is excessive, sweating, and the hyperkeratosis of the hair follicles on the elbows and knees occurs, and the nail changes after birth. However, more often seen in the first few months after birth, due to hyperkeratosis, the distal end of the nail is tilted up, and there is a characteristic threshold-like distal hyperkeratosis. Mucosal leukoplakia is more common in the tongue and mouth, occasionally involving the throat, causing sound.

The clinical manifestations of other types were similar to those of type I, but type II accompanied by fetal teeth, multiple sebaceous cysts; type III with corneal leukoplakia; type IV developed later, in the neck, waist, armpits, thighs, flexion of the knee, Pigmentation can be seen in the buttocks and abdomen.

Examination of congenital thick nail disease

Histopathology revealed pigment incontinence and amyloid deposition.

Diagnosis and diagnosis of congenital thick nail disease

According to the clinical manifestations, the characteristics of skin lesions and histopathological features can be diagnosed.

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