Dermatology Online Journal

Congenital autonomic dysfunction with universal pain loss (Riga-Fede disease)
Brian R. Toy
Dermatology Online Journal 7(2): 17

New York University Department of Dermatology

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History

This 20-month-old boy presented to the Bellevue Hospital Medical Center at age ten months for evaluation of oral plaques of three-months duration. The lesions appeared shortly after teething and were exacerbated by repetitive tongue thrusting and lip biting.

Past medical history includes developmental delay and poor feeding since birth. Family history is negative for skin and developmental disorders and congenital syndromes.

Physical Examination

Figure 1	Figure 2

A 3-cm, white, firm, verrucous plaque was present on the mucosal surface of the lower lip. Similar lesions were present on the ventral surface of the tongue and lingual frenulum. The sublingual fold was spared.

On general examination, he appeared malnourished and ranked below the fifth percentile in height and weight. Neurologic examination showed low muscle tone, decreased strength, and lax, hyperextensible joints. Deep tendon reflexes were normal.

Laboratory Data

Neurological tests, which included pain sensitivity analysis, tilt table examination, and histamine challenge, concluded that the patient suffers from sensory and autonomic dysfunction as well as pain insensitivity.

Histopathology

There is a proliferation of histiocytes with folded nuclei and moderate amounts of faintly eosinophilic cytoplasm admixed with an infiltrate of eosinophils and a few lymphocytes.

Comment

Congenital autonomic dysfunction with universal pain loss (Riga-Fede disease) is an ulcerative, granulomatous disorder that results from repetitive trauma to the oral mucosa. Originally described clinically by Riga in 1881 and histologically by Fede in 1890, the designation of Riga-Fede disease applies specifically to children under the age of two. Others with similar clinical and histopathologic findings have been reported as eosinophilic ulcer, traumatic and/or eosinophilic granuloma, and traumatic ulcerative granuloma with stromal eosinophilia.

Reactive granulomas typically arise in areas of oral mucosa traumatized by the teeth. In children, the onset of disease often coincides with the eruption of primary teeth at six to eight months of age. Although this condition is both rare and benign, it is often associated with developmental delay and other neurologic diseases, such as familial dysautonomia (Riley-Day syndrome) and Lesch-Nyhan syndrome. In this patient, neurologic tests showed that he suffers from congenital autonomic dysfunction with universal pain loss, which is a form of hereditary sensory autonomic neuropathy. The patient's insensitivity to pain results in mutilation of the oral mucosa.

Damaged teeth, which result from trauma due to seizure activity and poor motor control, occur in 59% of those suffering from familial dysautonomia and increase the potential for trauma to the oral mucosa. Minimizing this potential is the cornerstone of treatment, which includes behavior modification, the use of protective dental appliances, filing of the teeth, and, in severe cases, dental extraction.

References

Burgess G, et al. Eosinophilic ulcer of the tongue: report of two cases. Arch Dermatol 113:644, 1977

Elzay R. Traumatic ulcerative granuloma with stromal eosinophilia (Riga-Fede's disease and traumatic eosinophilic granuloma). Oral Surg Oral Med Oral Pathol 55:497, 1983

Rongioletti F, et al. Traumatic eosinophilic ulcer of the oral mucosa. Cutis 43:357, 1989

Eichenfeld L, et al. Traumatic granoloma of the tongue (Riga-Fede disease): association with familial dysautonomia. J Pediatr 116:742, 1990

Mezei M, et al. Eosinophilic ulcer of the oral mucosa. J Am Acad Dermatol 33:734, 1995

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