Absence of inferior labial or lingual frenula is not a useful clinical marker for Ehlers–Danlos syndrome in the UK

Abstract

References1 Silverberg NB, Herz J, Wagner A, Paller AS. Erythema dyschromicum perstans in prepubertal children. Pediatr Dermatol 2003; 20: 398-403. 2 Ing EB, Buncic JR, Weiser BA, de Nanassy J, Boxall L. Periorbital hyperpigmentation and erythema dyschromicum perstans. Can J Ophthalmol 1992; 27: 353 -355. 3 Ramirez CO. The ashy dermatosis (erythema dyschromicum perstans) -epidemiological study and report of 139 cases. Cutis 1967; 3: 244 -247. 4 Knox JM, Dodge BG, Freeman RG. Erythema dyschromicum perstans. Arch Dermatol 1968; 97: 262 -272. 5 Novick NL, Phelps R, Tom C. Erythema dyschromicum perstans. Int J Dermatol 1986; 25: 322 -323. 6 Sanchez NP, Pathak MA, Sato SS et al. Circumscribed dermal melaninoses: classification, light, histochemical, and electron microscopic studies on three patients with the erythema dyschromicum perstans type. Int J Dermatol 1982; 21: 25-31. 7 Gross A, Tapia FJ, Mosca W et al. Mononuclear cell subpopulation and infiltrating lymphocytes in erythema dyschromicum perstans and vitiligo. Histol Histopathol 1987; 2: 277 -283. 8 Mizukawa Y, Shiohara T. Fixed drug eruption presenting as erythema dyschromicum perstans: a flare without taking any medications. Dermatology 1998; 197: 383 -385. 9 Kontochristopoulos G, Stavropoulos P, Panteleos D, Aroni K. Erythema dyschromicum perstans: response to dapsone therapy. Int J Dermatol 1998; 37: 796 -798. 10 Baranda L, Torres-Alvarez B, Cortes-Franco R et al.Involvement of cell adhesion and activation molecules in the pathogenesis of erythema dyschromicum perstans (ashy dermatitis). The effect of clofazimine therapy.

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

“…Istraživači su 1986. godine stvorili dijagram korištenjem rimskih brojeva i klasificirali sindrom u deset tipova, ovisno o kliničkim pokazateljima i genskom nasljeđu. Kako je ta podjela zbunjivala, revidirana je 1997. godine u VilleAmong the syndromes that present absence of lingual frenulum, there are: the Rapp-Hodgkin syndrome 9 , the Fraser syndrome 8 and the Ehlers-Danlos syndrome (3,(10)(11)(12)(13)(14)(15)(16)(17). The Rapp-Hodgkin syndrome is associated with ectodermic dysplasia, capillary alterations with tendency to alopecia and the presence of labial or palatine cleft (9).…”

“…Glavne opisane oralne manifestacije su sljedeće: Gorlinov znak (hiperpokretljivost jezika), gotsko nepce, odsutnost LF-a i donjega labijalnog frenuluma, rani parodontitis, nakupine fibrina u parodontu, krvarenje gingive, ulceracije sluznice, pokretljivost zuba, zubna hipoplazija, strukturalne nepravilnosti dentina, kratki nepravilni ili dilacerirani korijeni zuba, kalcifikacije pulpe, nedostatak zuba, prekobrojni zubi i promjene u temporomandibularnom zglobu (hiperpokretljivost, trismus, krepitacije, preskakanje i zapinjanje) (3,10,16). Analizom članova obitelji u prikazanom slučaju, samo je jedan član imao hiperpokretljive zglobove i hiperelastič-nu kožu te nije imao LF.…”

“…However the scientific literature shows that there is no agreement about the association of EDS with the absence of LF (11,15,16,23). The association of EDS with absent lingual or labial frenulum was suspected clinically but was first demonstrated by de Felice et al, who, after comparing 12 EDS patients and 154 non-syndromic patients, argued that the absence of the inferior labial frenulum and/or LF is tkiva i/ili drugim tkivnim promjenama imaju karakteristič-nu kliničku sliku zbog greške u enzimima pri stvaranju kolagena ili dominantno negativnog učinka zbog mutacije u lancima kolagena.…”

“…The main oral manifestations described are: Gorlin sign (hypermobility of the tongue), high arched palate, absence of LF and of the inferior labial frenulum, early onset of periodontitis, deposits of fibrin in the periodontium, gingival bleeding, ulcerations of the mucosa, tooth mobility, dental hypoplasia, structural irregularities in dentin, short malformed or dilacerated teeth roots, calci-fications of the pulp, absence of teeth, supernumerary teeth, and alterations related to the temporomandibular joint (hypermobility, trismus, crepitation, clicking and closed lock), (3,10,16). Analyzing the family member in the present study, only one presented joint hypermobility and hyperelasticity of the skin, in addition to absence of LF.…”

“…EDS, a hereditary genetic disorder, consists of a group of alterations inherent of connective tissue that presents a defect in collagen metabolism, leading to fragility of the skin and blood vessels, hyperextensibility of the skin, and joint hypermobility (3,(10)(11)(12)(13)(14)(15)(16)(17). A few authors have described that the absence of LF is a potential indicator of EDS 9 .…”