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Entry from

Leiber, Bernfried

Die klinischen Syndrome: Syndrome, Sequenzen und Symptomenkomplexe

[The Clinical Syndromes: Syndromes, Sequences, and Symptom Complexes]

7 th edition, completely reworked

Volume 1: Clinical pictures

Pachyonychia congenita

Syn: Jadassohn-Lewandowsky Syndrome

Def.: Autosomal dominant hereditary keratinization disorder with characteristic nail

thickening.

A 1 .: First description 1906 by the German dermatologists Josef Jadassohn, 1863-1936, and

Felix Lewandowsky, 1879-1921.

Diagnostic criteria: (1) Massive nail thickening of all fingers and toes, sometimes already

present at birth, gradually increasing. Thickening increases toward the distal end; concurrent

transversal curvature. – (2) Dirty yellow-brown discoloration of the nail. – (3) Circumscribed

symmetrical hyperkeratoses on the palms and soles. – (4) Blistering in warm conditions

(palmo-) plantar. – (5) Hyperhidrosis palmoplantaris. – (6) Follicular keratoses

predominantly on the elbows and knees with overall dry skin, occasionally signs of ichthyotic

skin. – (7) Leukoplakias of the oral mucosa. – (8) Natal teeth. – (9) Steatocystoma multiplex.

– (10) In adults, corneal dystrophy possible, cataract, reticular pigmentation. Hearing

impairment, hypotrichosis, hoarseness.

Etiology. Autosomal dominant hereditary keratinization disorder with variable expression

and incomplete penetration of the gene.

Pathog.: Unknown.

Remarks: Type 1 (Jadassohn-Lewandowsky): with leukoplakias and plantar bullae. Type II:

without leukoplakias, minor keratoses. Type III: premature dentition with natal teeth and

minor keratoses. In 3 cases, autosomal recessive transmission was claimed; however, the

clinical picture was not typical. Type IV: with spotty pigmentation on the throat, axillae,

trunk, thighs, and the backs of the knees, which, like the nail changes, recede in adulthood.

Histological: Pigmentation incontinence and subepidermal amyloid deposits.

Lit.: Jadassohn J. Lewandowsky F (1906): Pachyonychia congenita. Keratosis disseminata

circumscripta, tylomata, leucokeratosis linguae. Iconographia Dermatologica. Tab 6, Vienna,

Berlin. – Reich H (1980) Jadassohn-Lewandowsky Syndrom: Haut-Auge-Mund und Zahn-

Kehlkopf-Nervensystem. [Jadassohn-Lewandowsky Syndrom: Skin-Eye-Mouth and Tooth-

Larynx-Nervous System]. Therapiewoche 30: 6247.

1 Translator's note: Key not available. First description?

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