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Richner-Hanhart syndrome in Adult
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Richner-Hanhart syndrome in Adult

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Contributors: Amy Fox MD, David Dasher MD, Lowell A. Goldsmith MD, MPH
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Synopsis

Richner-Hanhart, also known as tyrosinemia type 2, is an autosomal recessive disease of tyrosine metabolism. Males and females are equally affected. The first observed manifestation is often keratitis presenting in the first several years of life. This can progress to ulceration, bilateral pseudodendritic keratitis, or blindness. Classic plantar keratoderma is preceded by bullae, erosions, or erythema. Keratoderma is focal and shows a predilection to weight-bearing surfaces of the feet. Affected children can show delay or refusal to walk secondary to pain.

Intellectual disability in these patients is highly variable in severity. Many of the cutaneous manifestations can improve with dietary restrictions, and, thus, early diagnosis and intervention is paramount. Such restrictions, however, have not been shown to reverse intellectual disability. These patients have a normal lifespan.

For more information, see OMIM.

Codes

ICD10CM:
E70.29 – Other disorders of tyrosine metabolism

SNOMEDCT:
4887000 – Richner-Hanhart syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Epidermolysis bullosa – Multiple forms present with bullae in infancy. Electron microscopy and/or immunofluorescent microscopy are helpful in establishing diagnosis.
  • Herpetic keratitis – Can have similar clinical features, but patient will lack focal palmoplantar keratoderma (PPK). Polymerase chain reaction (PCR) can definitively establish diagnosis.
  • Mal de Meleda – Similar hyperkeratotic plaques on elbows / knees and PPK that is typically malodorous. Will lack ocular findings and intellectual disability.
  • Papillon-Lefevre syndrome – May have a punctate keratoderma but, typically, this is more extensive with transgrediens (lesions extending to the dorsal surface of the palms and soles). Patients also have periodontitis.

Best Tests

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Therapy

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References

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Last Updated: 10/19/2018
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Richner-Hanhart syndrome in Adult
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Richner-Hanhart syndrome : Photophobia, Corneal dendritic ulcer, Flaccid bullae, Excessive tearing, Plantar feet, Palms
Clinical image of Richner-Hanhart syndrome
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