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Naegeli-Franceschetti-Jadassohn syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Clinical features Naegeli-Franceschetti-Jadassohn syndrome is a very rare genetic variant of ectodermal dysplasia with an autosomal dominant form of transmission. It is characterized by cutaneous reticulate patchy and mottled hyperpigmentation of the neck, trunk, and limbs, absence of dermatoglyphics, diffuse and/ or punctate palmoplantar keratoderma, nail dystrophy, teeth abnormalities, and hypohidrosis resulting in heat intolerance (Fig. 20.33).1,2 The reticulate hyperpigmentation tends to be more pronounced around the neck, fades after puberty, and may disappear completely in old age.2,3 Tooth involvement is usually severe and may lead to complete loss early in life. The
Fig. 20.33 Naegeli-Franceschetti-Jadassohn syndrome: palmoplantar keratoderma is often seen. By courtesy of the Institute of Dermatology, London, UK.