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Specialty scores for Rapp-Hodgkin syndrome
Rapp-Hodgkin syndrome is a rare syndrome of ectodermal dysplasia characterized by anomalous development of embryonic ectodermal tissues including the skin, hair, teeth, nails, and sweat glands. It is a group of about 150 conditions and characterized by the association of anhidrotic ectodermal dysplasia with cleft lip or cleft palate. It is typically characterized by presence of orofacial cleft, hypodontia or microtia, genitourinary abnormalities, anomalies of tear duct, and hair involvement.
Rapp-Hodgkin syndrome is caused by mutations in the TP63 gene and transmitted as an autosomal dominant trait.
Signs and symptoms:
Common features of this syndrome include brittle, sparse and dry hair with alopecia in adulthood, hypohidrosis (a reduced ability to sweat due to decrease in the number of sweat glands), heat intolerance, dental anomalies, hearing impairment, high forehead, cone-shaped incisors and enamel hypoplasia (thin or absent tooth enamel), microdontia (decreased width of tooth), hypodontia (failure of development of between one and six teeth), and dysplastic (misshapen or absent) nails.
Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly (webbed fingers or toes), thick or thin nails, underdeveloped nasal alae, recurrent middle ear infection, narrow nasal breadth, hypospadias (birth defect in boys characterized by opening of the urethra located on the underside of the penis), hypoplastic labia majora (small labia majora), and small mouth. Patients may also present with bifid uvula, absent lacrimal punctum, cleft lip and cleft palate.
Rapp-Hodgkin syndrome has nearly overlapping signs and symptoms with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Until it was discovered that they both result from mutations in the same part of the same gene, these syndromes were classified as separate disorders. At present, Rapp-Hodgkin syndrome and AEC syndrome are considered to be part of the same disease spectrum.
The condition is diagnosed by typical clinical features and supplementary medical history. Clinical assessment with comprehensive physical examination stands utmost priority to formulate the diagnosis. Genetic testing is recommended to confirm mutations in the TP63 gene. Histopathology of skin must be done and is expected to reveal evidence of hyperkeratosis, acanthosis, follicular plugging, superficial perivascular infiltrate, increased pigmentation of basal layer, and decreased pilosebaceous follicles.
Hair examination can be conducted by dry trichoscopy using polarised light that typically shows varying diameters of hair shafts, placement of hair shafts at variable angles, and most hair follicles containing gray hairs or single hair.
Treatment of Rapp-Hodgkin syndrome is completely symptomatic and supportive. An integrated healthcare management is advised with the help of multidisciplinary team of specialists in medical genetics, dermatology, maxillofacial surgery, ophthalmology, otorhinolaryngology, endocrinology, audiology, dentistry and prosthodontics, plastic surgery, gastroenterology, and psychiatry is recommended. Management of cleft lip or cleft palate is done by performing surgical repair.
Other names of the condition:
Ectodermal dysplasia, anhidrotic, with cleft lip/palate
Rapp-Hodgkin ectodermal dysplasia syndrome