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Naegeli syndrome - Skin
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Naegeli syndrome - Skin

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Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Sarah Stein MD, Karen Wiss MD, Sheila Galbraith MD, Craig N. Burkhart MD, Dean Morrell MD, Lynn Garfunkel MD, Nancy Esterly MD
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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.

For more information, see OMIM.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia (anhidrotic)

SNOMEDCT:
239084001 – Franceschetti-Jadassohn Syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Dermatopathia pigmentosa reticularis – Thought to be allelic to Franceschetti-Jadassohn with many similar features but has alopecia, lack of dental anomalies, and stable reticulate hyperpigmentation.
  • Weary-Kindler – Shared features include congenital acral bullae, reticulate hyperpigmentation, and development of acral keratoses. Presence of photosensitivity, poikiloderma, and severe periodontal disease are helpful in distinguishing these patients from those with Franceschetti-Jadassohn.
  • Pachyonychia congenita – Also has reticulate hyperpigmentation with classic 20 nail dystrophy including distal nail plate elevation. Patients will lack hypohidrosis and dental changes.

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated: 03/29/2017
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Naegeli syndrome - Skin
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Naegeli syndrome : Palms and soles, Reticular - netlike, Hypohidrosis, Teeth abnormalities, No fingerprints, Hyperpigmentation
Clinical image of Naegeli syndrome
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