Richner-Hanhart syndrome in Infant/Neonate
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.
E70.29 – Other disorders of tyrosine metabolism
4887000 – Richner-Hanhart syndrome
Differential Diagnosis & Pitfalls
- – Multiple forms present with bullae in infancy. Electron microscopy and/or immunofluorescent microscopy are helpful in establishing diagnosis.
- – Can have similar clinical features, but patient will lack focal palmoplantar keratoderma (PPK). Polymerase chain reaction (PCR) can definitively establish diagnosis.
- – Similar hyperkeratotic plaques on elbows / knees and PPK that is typically malodorous. Will lack ocular findings and intellectual disability.
- – 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.