Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

Echaubard, Stéphane; Pebrel-Richard, Céline; Chausset, Aurélie; Kemeny, Jean-Louis; Merlin, Etienne; Laffargue, Fanny

doi:10.1186/s12969-022-00720-8

Pediatric Rheumatology

Table 2 Phenotypic characteristics of our patient and those described in the literature

From: Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

			Collinson et al., 2010 [20]	Gray et al., 2014 [18]	Gray et al., 2014 [18]	Gray et al., 2014 [18]	Flottmann et al., 2016 [22]	Flottmann et al., 2016 [22]	Flottmann et al., 2016 [22]	Tacke et al., 2021 [23]
Patient	Our patient	Our patient’s mother	P1	P2	P3	P4	P5	P6	P7	P8
					Father of P2			Mother of P5	Sister of P5
Family	Family 6	Family 6	Family 1	Family 2	Family 2	Family 3	Family 4	Family 4	Family 4	Family 5
Copy number variation on chromosome 12p11.22	900 kb Duplication including PTHLH	900 kb Duplication including PTHLH	Duplication including PTHLH	850 kb Duplication including PTHLH	850 kb Duplication including PTHLH	500 kb Duplication including PTHLH	70 kb Duplication including PTHLH	70 kb Duplication including PTHLH	70 kb Duplication including PTHLH	898 kb Duplication including PTHLH
Inheritance	Maternal	Unknown	De novo	Paternal	Unknown	De novo	Maternal	Maternal	Maternal	De novo
Homogene/mosaic	homogene	homogene	homogene	homogene	mosaïc	mosaïc	homogene	homogene	homogene	homogene
Short stature			+			+		+		+
Skeletal anomalies	+	+	+	+	-	+	+	+	+	+
Shortened limbs or phalanges/asymmetric limbs		-	+	+	-	+	+	+
Bone/finger/joint deformity	+	-	+	+	-		+	+	+	+
Bone lesions	+	-	+	+	-	+	+	-	+	+
	Acro-osteolysis, fracture-consolidation cycle resorption areas and fibrosis, multiple endochromatosis,	No osteolysis	Brachydactyly type E with cone-shaped epiphyses	Acro-osteolysis osteoporosis		Acro-osteolysis, microscopic anomalies of bone formation, radiolucencies	Abnormal ossification and epiphyseal development bones pseudarthrosis		Delayed epiphyseal maturation, delayed carpal ossification	Chondrodyspla-sia, lesions resembling enchondromas fractures
Other	Facial asymmetry, pain	Post-axial polydactyly	Enchondroma -tosis	Coarse facial features, osteoporosis		Scoliosis	Cervical iordosis	Limitation prono -supination		Swelling and limited mobility of right elbow

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ISSN: 1546-0096

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