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At a glance

A disease characterized by keratoderma, hypotrichosis, and leukonychia totalis.


Keratoderma Hypotrichosis Leukonychia Syndrome; Palmoplantar Keratoderma and Congenital Alopecia 1.


No more than 10 cases have been reported. Initially described in a Turkish mother and her two daughters.

Genetic inheritance

The genetic defect of this autosomal dominant inherited disorder affects the GJA1 (Gap-junction Protein alpha 1 or connexin 43) gene on chromosome 6q22. GJA1, the most common connexin, is a component of gap junctions and found in almost all cell types, but is particularly abundant in cardiac cells where it seems to play a pivotal role in synchronizing cardiac contractions.

Clinical aspects

The index family presented with congenital hypotrichosis, dry skin, keratosis pilaris, and leukonychia totalis. Hair characteristics included trichorrhexis nodosa and trichoptilosis (longitudinal splitting of the distal end of the hair). The patients gradually developed palmoplantar keratoderma and hyperkeratotic lesions on their knees, elbows, and in the perianal area.

Precautions before anesthesia

Routine preoperative assessment and examination. There are no specific anesthetic precautions related to this disorder.

Anesthetic considerations

No specific anesthetic considerations are expected.

Pharmacological implications

None specific to this disorder.

Other conditions to be considered

This syndrome must be distinguished from other forms of Keratosis Palmaris et Plantaris Syndrome, which may be associated with an increased risk of malignancies, particularly of the esophagus or colon.

  • ☞Haim Munk Syndrome (Keratosis Palmoplantaris with Periodontopathia and Onychogryposis; Cochin Jewish Disorder): Autosomal recessive inherited disorder characterized by the development of palmoplantar hyperkeratosis, recurrent pyogenic skin lesions, onychogryposis, and severe periodontitis. Hand anomalies include arachnodactyly with tapered and pointed phalangeal ends and a claw-like volar curvature, acroosteolysis, and radiographic deformities.

  • ☞Keratosis Palmoplantaris with Esophageal Cancer (Tylosis with Esophageal Cancer; Keratosis Palmoplantaris with Adenocarcinoma of the Colon/Esophagus; Clarke Howel-Evans Syndrome; Clarke-Howel-Evans-McConnell Syndrome; Howel-Evans Syndrome; Bennion-Patterson Syndrome): Most often autosomal dominant inherited disorder characterized by palmoplantar keratosis in combination with gastrointestinal cancers.

  • ☞Papillon-Lefèvre Syndrome (Keratosis Palmoplantaris with Periodontopathy; Palmoplantar Ectodermal Dysplasia Type IV): Autosomal recessive inherited hyperkeratosis of palms and soles appearing within the first 4 years of life. Usually diffuse type, seldom punctate type, and generally not severe. Other features include severe periodontal disease and calcification of the choroid plexus and tentorium.

  • ☞Schöpf-Schulz-Passarge Syndrome (Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis; Eccrine Tumors with Ectodermal Dysplasia Syndrome): This autosomal recessive inherited disorder is characterized by keratosis palmoplantaris, eyelid tumors, and cysts (1-2 mm in diameter and originating from the Moll glands), hypotrichosis, hypodontia, and onychodystrophy. Eccrine tumors (poromas) with ectodermal dysplasia are part of this medical condition.



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