Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: Newly recognized findings

Abstract

We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss. The mouth was small with repaired bilateral cleft lip and palate. Oral manifestations included hypodontia, microdontia, unerupted mandibular premolars with well formed roots, large dental pulp spaces, enamel hypoplasia, multiple caries, glossy tongue, and congenital absence of lingual frenum and of sublingual caruncles including submandibular and sublingual salivary duct openings. Palmo-plantar keratoderma, unerupted premolars, congenital absence of lingual frenum, sublingual caruncles, glossy tongue, and pili canaliculi seen in the patient are newly recognized findings of this syndrome. Overlapping findings of RHS ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), and ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC) are discussed.

Familial Hypoplastic Lingual Frenum: Case Report and Discussion of Differential Diagnosis

“…Dodatno su opisani abnormalni razvojni poremećaji frenuluma kod Pallister-Hallova sindroma, Optizova trigonocefalijskog sindroma (Optizov C-sindrom), W-sindroma i Optizova sindroma (3,8,9).…”

“…Kako nastaje defekt u metabolizmu kolagena pucaju koža i krvne žile, te se pojavljuje hiperrastezljivost kože i hiperpokretljivost zglobova (3, 10 -17). Nekoliko istraživača tvrdi da je odsutnost LF-a potencijalni pokazatelj EDS-a (9). Obiteljski abnormalno kratak, ili čak nepostojeći LF, rijetko je stanje s kojim se susreću stomatolozi i ostali liječnici (18).…”

“…To ispitivanje uključuje hiperekstenziju petog prsta, postavljanje palca na ventralnu stranu podlaktice, hiperekstenziju lakatnog zgloba veću od 10°, hiperekstenziju koljena veću od 10° i postavljaOral frenulum altered in morphology or number has been associated with many genetic conditions, such as: Ehlers-Danlos syndrome (EDS), infantile hypertrophic pyloric stenosis, holoprosencephaly, orofacial digital syndrome (OFD), Rapp-Hodgkin syndrome and Fraser syndrome. Additionally, abnormal development defects have been described as characteristics of the Pallister-Hall syndrome, Optiz trigonocephaly syndrome (Optiz C syndrome), W syndrome, and Optiz syndrome (3,8,9).…”

“…A few authors have described that the absence of LF is a potential indicator of EDS 9 . Familial abnormally short or even absent lingual frenulum is a rare condition to dentists and physicians (18).…”

“…LF se klinički smatra normalnim ako insercija počinje u sredini donje strane jezika i završava u dnu usne šupljine. Smatra se da LF ima anteriornu inserciju ako počinje na donjoj strani jezika između njegove sredine i vrška, a kratak je ako je veliči-nom manji (1, 21) ili može čak nedostajati kod sindromskih ili nesindromskih stanja (9,17,18). Ankiloglosija (jezična kravata) relativno je uobičajeno nesindromsko stanje povezano s kratkim LF-om i s prevalencijom od oko četiri do pet posto.…”