Naegeli-franceschetti-jadassohn syndrome Q82.3

Rare, hereditary ectodermal dysplasia (OMIM:161000) with reticular hyperpigmentation and hypopigmentation, without significant signs of inflammation, palmoplantar keratoses, dental anomalies (delayed eruption, oligodontia, cone teeth).

Alopecia as well as hypohidrosis with resulting febrile episodes during physical exertion are inconstant.

Autosomal-dominantly inherited mutations of the Naegeli-Franceschetti-Jadassohn gene (KRT14 gene, also NFJ gene; gene locus: 17q11.2-q21), which codes for keratin 14. Apparently, the disruption of keratin leads to an increased apotosensitivity of the affected cells (Ralser DJ et al. 2020).

Absent dermatoglyphics (finger ridges), reticular hyperpigmentation of the skin (onset at about 2 years of age, without preceding signs of inflammation), hypohidrosis (decreased function of sweat glands with discomfort at high outdoor temperatures), nail dystrophy, enamel defects, and moderate hyperkeratosis of the palms and soles. Diffuse palmoplantar keratosis may occur together with pressure point-enhanced keratoses. These may be increased in skin folds. Less common are linear formations of the keratoses. Some patients had congenital malposition of the big toe and fingernails.

Incontinentia pigmenti (Bloch-Sulzberger); Dermatopathia pigmentosa reticularis;

External symptomatic therapy of palmoplantar keratoses, corresponding to keratosis palmoplantaris diffusa circumscripta. Treatment of hypohidrosis. Dental rehabilitation.

There is a close clinical relationship to the dermatopathy pigmentosa reticularis described by Hauss and Oberste-Lehn in 1958, which is described as an allelic variant (mutations in KRT5 were demonstrably described).

1. Franceschetti PA, Jadassohn W (1954) A propos de l'incontinence pigmenta, dehmitation de deux syndromes differencs figurant sous le meme terme. Dermatologica 108: 1-28
2. Itin PH et al (1993) Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol 28: 942-50
3. Itin PH, Buechner SA (1999) Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism. Am J Med Genet 85: 351-854
4. Mevorah B et al (1993) Sweat studies under conditions of moderate heat stress in two patients with the Naegeli-Franceschetti-Jadassohn syndrome. Dermatology 187: 174-177
5. Naegeli O (1927) Familial chromic nevus. Schweiz Med Wochenschr 8: 48
6. Ralser DJ et al (2020) Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome. Br J Dermatol. 183:756-757.
7. Siemens HW (1929) Melanosis corii degenerativa, a new pigmentary dermatosis. Arch Derm Syph 157: 382
8. Shah BJ et al (2015) Naegeli-Franceschetti-Jadassohn syndrome: A rare case. Indian Dermatol Online J 6:403-406.
9. Sprecher E et al. (2002) Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol 119: 692-698
10. Whittock NV (2000) The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21 J Invest Dermatol 115: 694-698.