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Jadassohn-Lewandowsky syndrome

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An ectodermal dysplasia characterised by the association of congenital pachyonychia, hyperhidrosis of the palms and soles, follicular keratosis, palmar and plantar keratosis appearing in 2nd or 3rd year, and leukoplakia of oral and anal mucosa.

Description

An ectodermal dysplasia characterised by the association of congenital pachyonychia, hyperhidrosis of the palms and soles, follicular keratosis, palmar and plantar keratosis (thickening of the horny layer of the skin) appearing in 2nd or 3rd year, and leukoplakia of oral and anal mucosa (usually in 2nd decade). Hair normal or abundant, or hypertrichosis. Intelligence defects. Both sexes affected; evident at birth or developing in early infancy. Aetiology unknown. Autosomal dominant inheritance with variable penetrance. This eponym is mainly used in the French literature. Without leukosis, the condition is known as the Jackson-Lawler syndrome.

Jadassohn and Lewandowsky's patient was a fifteen-year-old girl who was admitted to hospital with fungating tuberculosis of the skin. Abnormalities had been present since birth and she also had unusual keratinisation of the skin and tongue. In their case description, Jadassohn and Lewandowsky stated "The nail plates of all the fingers and toes are extremely thickened, and so hard that they cannot be cut with scissors; the father has to trim them with a hammer and chisel. The fingernails are of normal length and width, shiny and smooth on the surface, and show dry whitish streaks here and there at the free edges. They are translucent on the whole, and only at the very tip of the fingers are they coloured greyish black. At the distal parts, especially, they are more strongly arched transversely than normal; some are also somewhat more curved in their long axis toward the volar surface. They become thicker toward the free border, measuring three to five mm. in thickness there. For this reason they project quite markedly on the dorsal aspect but at the same time they lie on a greatly thickened nail bed; this is, as it were, enveloped by them and compressed from the sides toward the middle so that it stands out on the free edge as a small addition to the thick, sickle-shaped plate."

Hyperhidrosis of the nose, palms and soles, scanty papular hyperkeratosis of the knees and elbows and a white plaque on the tongue were additional features. The authors mentioned that a younger brother was similarly affected, although the parents and seven sisters had no skin problems.

The familial nature of the disturbance was established in 1921, when Murray documented seven affected persons in three generations of a family. In a similar report, Kumer and Loos in 1935 described 24 cases in a 5-generation family. The phenotype was expanded and the autosomal dominant mode of inheritance was clinched in 1983 when Stieglitz and Centerwall published details of a kindred with 17 affected persons in four generations. The conjoined eponym featured in the title of this latter article.

Bibliography

  • J. Jadassohn, F. Lewandowsky:
    Pachyonychia congenita keratosis disseminata circumscripta (follicularis). Tylomata, Leucokeratosis linguae.
    In: Albert Neisser and Eduard Jacobi: Ikonographia dermatologica. Vienna and Berlin, Urbach & Schwarzenberg,1906, pp 29-31.
  • F. A. Murray:
    Congenital anomalies of the nails. Four cases of hereditary hypertrophy of the nail bed associated with a history of erupted teeth at birth.
    British Journal of Dermatology, Oxford, 1921, 33: 409-412.
  • L. Kumer, H. O. Loos:
    Ueber Pachyonychia congenita (Typus Riehl).
    Wiener klinische Wochenschrift, 1935, 48: 174-178.
  • J. B. Stieglitz, W. Rr. Centerwall:
    Pachyonychia congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four generation pedigree with unusual respiratory and dental involvement.
    American Journal of Medical Genetics, New York, 1983, 14: 21-28.

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