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Naegeli syndrome in Child
Other Resources UpToDate PubMed

Naegeli syndrome in Child

Contributors: David Dasher MD, Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Dean Morrell MD, Lynn Garfunkel MD
Other Resources UpToDate PubMed

Synopsis

Franceschetti-Jadassohn syndrome, also known as Naegeli-Franceschetti-Jadassohn syndrome, is a rare autosomal dominant ectodermal dysplasia characterized by reticulate hyperpigmentation, hypohidrosis, keratoderma, and absence of dermatoglyphics.

Reticulate hyperpigmentation of the trunk, neck, and axilla often occur within the first 2 years life with gradual resolution into late life. Patients have palmoplantar keratoderma, which, in turn, causes loss of dermatoglyphics. Teeth can have an abnormal shape in addition to enamel defects. Extensive dental work at a young age is often required, and this offers a key diagnostic clue. Nails can be brittle or malaligned. Hair is often normal, which can be a key distinguishing feature from other ectodermal dysplasias.

Hypohidrosis or anhidrosis often manifests as heat intolerance in childhood and is the primary cause of morbidity in this condition.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia (anhidrotic)

SNOMEDCT:
239084001 – Franceschetti-Jadassohn Syndrome

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Last Updated:03/22/2022
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Naegeli syndrome in Child
A medical illustration showing key findings of Naegeli syndrome : Palms and soles, Reticular - netlike, Hypohidrosis, Teeth abnormalities, No fingerprints, Hyperpigmentation
Clinical image of Naegeli syndrome - imageId=192511. Click to open in gallery.  caption: 'Punctate hyperkeratotic papules and effacement of dermatoglyphics on the sole.'
Punctate hyperkeratotic papules and effacement of dermatoglyphics on the sole.
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