Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Hadj-Rabia, Smail; Callewaert, Bert L; Bourrat, Emmanuelle; Kempers, Marlies; Plomp, Astrid S; Layet, Valerie; Bartholdi, Deborah; Renard, Marjolijn; Backer, Julie De; Malfait, Fransiska; Vanakker, Olivier M; Coucke, Paul J; De Paepe, Anne M; Bodemer, Christine

doi:10.1186/1750-1172-8-36

Orphanet Journal of Rare Diseases

Table 1 Clinical details of the patients available for clinical evaluation

From: Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Patient	Sex, Age (y)	Skin							Inguinal hernia	Cardiovascular	Pulmonary emphysema	Other
		Aspect	Topography						Left (L)/Right (R)/Bilateral (B) (times surgery)
		Aspect	Trunk	Axillar region	Inguina region	Limbs	Neck	Face	Left (L)/Right (R)/Bilateral (B) (times surgery)
F1:I-1	F, 84	Redundant	+	+	+				L (1)	-	+	Bilateral ptosis, sagging breasts, pelvic prolapse
F1:II-2	M, 59	Smooth, sagging, loose		+	+		+	+	B (10).	-	+	Pliant ears
F1:II-3	M, 57	Smooth, redundant sagging	+	+				+	B (12)	TVS ARD	+	Nycturia, decreased fertility
F1:II-4	M, 53	Sagging loose, sagging, redundant		+	+	+	+	+	B (15)	ARD (85mm – surgery), AR, MR	+	Umbilical hernia
F1:II-4	M, 53	Sagging loose, sagging, redundant		+	+	+	+	+	B (15)	ARD (85mm – surgery), AR, MR	+	Inguinal hernia surgery (13 times)
F1:II-5	F, 51	Sagging loose, sagging, redundant	+	+	+		+	+	-	-	-
F1:II-7	M, 46	Loose, sagging	+				+	+	-	-	-	Gastroesophageal reflux disease, strabismus
F1:III-1	F, 23	Sagging, loose, redundant	+	+	+		+		B (2)	-	-	Sagging breasts
F1:III-4	M, 22	Sagging	+					+	R (2)	ARD	-	Gastroesophageal reflux disease, coarse face
F2:I-1	M, 48	Redundant		+	+				-	-	+	Hoarse voice, corrective skin surgery
F2:II-1	F, 21	Redundant		+	+				B (0)	MVP	+	Hoarse voice, corrective skin surgery (3 times)
F3:I-2	F, 31	Excessive, sagging	+	+	+	+	+	+	-	ARD	-
F3:II-1	M, 7	Excessive, sagging					+	+	-	ARD	-	Hoarse voice
F3:II-2	M, 4	Excessive, sagging	+	+	+	+	+	+	-	Pulmonary artery dilatation	Asthma	Atopic dermatitis, hoarse voice
F4:II-1	M, 16	Redundant	+	+	+			+	-	ARD		Coarse face
F4:II-2	M, 14	-						+	-	Dilated aortic arch (27mm)		Coarse face
F5:II-1	F, 14	Excessive, sagging	+	+	+	+	+	+	-	-	-	Labiae major coalescence
F5:II-2	M, 10	Excessive, sagging	+	+	+	+	+	+	-	AR	-	Testis ectopia
F5:II-3	F,7	Excessive, sagging	+	+	+	+	+	+	-	AR, Borderline ARD (23mm)	-
S1:II-2	M, 1	Excessive, sagging,	+	+	+			+	-	ARD
F6:II-1	M, 39	Redundant	+	+				+	-	AR, global increase of arterial diameter	-

M, male; F, female; y, years; L, left; R, right; B, bilateral; AR, aortic valve regurgitation; ARD, aortic root dilatation; MVP, mitral valve prolapse; MR, mitral valve regurgitation; TVS, tricuspid valve stenosis. F1 to F6: familial cases, S1: sporadic case.

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ISSN: 1750-1172

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