Rapp-Hodgkin Syndrome: A Case Report on its Clinical and Dental Manifestations

Abstract

Rapp-Hodgkin Syndrome (RHS) is a rare heterogeneous disorder characterised by ectodermal abnormalities primarily affecting the skin, teeth, eyes, hair and appendages. It is a type of Anhidrotic Ectodermal Dysplasia (AED) associated with clefts of the lip, palate and alveolus. Affected areas include the skin, hair, teeth, mouth, jaws, nails, eyes and ears. The authors present a case of RHS in a 13-year-old male who complained of deformed teeth, reduced sweating and heat intolerance. Clinical findings included sparse, thin hair on the scalp and eyebrows, sparse eyelashes, epiphora, discoloured scaly skin, a deformed pinna, microstomia, trismus, a cleft lip scar, hyponychia and a deficient maxilla. Intraoral examination showed oligodontia and misshapen teeth, along with a depapillated tongue. The patient had previously undergone cleft lip and palate surgery, ankyloblepharon release, adenoid surgery, and ear surgery at a younger age. Radiographically, there was evidence of cleft alveolus, retained deciduous teeth, impacted teeth and oligodontia. Although the patient had a normal karyotype, histopathological examination of the skin showed hyperkeratosis, acanthosis, follicular plugging, and increased pigmentation of the basal cell layer. Considering this amalgamation of signs and symptoms, a diagnosis of RHS was made, which necessitates a multidisciplinary approach for treatment. This patient will require a multidisciplinary approach to address his complaints. The authors reported the present case because it represents a rare type of ectodermal dysplasia, which is important for any physician’s knowledge due to its varied presentations.

Keywords

• ankyloblepharon
• depapillated tongue
• hay-wells syndrome
• oligodontia