Table 3.

Genetic Disorders Associated with Oral Manifestations in the Differential Diagnosis of Periodontal Ehlers-Danlos Syndrome

DisorderGene(s)MOIManifestationsOther Features
OralDermatologic
Vascular EDS (vEDS) COL3A1 AD
(AR)		Gingival recession, gingival fragility, & bleeding gums. 1 vEDS is not assoc w/early severe periodontitis.Bruising unrelated to identified trauma &/or in unusual sites. vEDS is not assoc w/pretibial plaques.Aneurysms/arterial rupture & organ ruptures (aneurysms & organ ruptures suggestive of vEDS also reported in pEDS but much less frequently; prematurely aged appearance, prominent eyes, attached earlobes, acrogeric changes of hands & feet, hypermobility of small joints
Hereditary angioedema (OMIM 106100)SERPING1
(C1INH)		AD
AR		Periodontal bone loss in conjunction w/episodes of acute gingival edemaAngioedematous attacks
Hypophosphatasia ALPL AD
AR		Premature loss of primary & secondary teethRecurrent fractures; osteomalacia; rickets, ↓ serum alkaline phosphatase, ↑ urinary phosphoethanolamin
Kindler syndrome FERMT1 AREarly severe periodontitisCongenital blistering, skin atrophy, photosensitivity, skin fragility
Odontohypophos-phatasia (See Hypophosphatasia.) ALPL AD
AR		Premature loss of primary & secondary teeth↓ serum alkaline phosphatase, ↑ urinary phosphoethanolamin
Papillon-Lefevre syndrome (OMIM 245000) CTSC ARSevere periodontitis w/early-childhood onsetHyperkeratosis of palms & soles
Severe congenital neutropenia (OMIM PS202700) CSF3R
ELANE
G6PC3
GFI1
HAX1
JAGN1
SRP54
VPS45
WAS 		AD
AR
XL		Severe periodontitis w/early-childhood onsetRecurrent severe infections, hematologic findings
Singleton-Merten syndrome (OMIM 182250, 616298) DDX58
IFIH1 		ADPremature loss of teeth, short tooth rootsShort stature, calcifications of the aorta & aortic & mitral valves, osteoporosis

From: Periodontal Ehlers-Danlos Syndrome

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