Table 1.

Demographic information and clinical findings from the CSHS cohort

Subject	Sex	Ethnicity	Nevi type	Mutation [1], Lim et al. JAAD	Age of rachitic onset (years )	Pathologic fractures	Scoliosis	Other skeletal defomrities	Laterality of skin vs. bone lesions	Response to oral phosphate and calcitriol	Spontaneous improvement of mineral alterations	Extra-osseous/ extra-cutaneous manifestations
CSHS101	F	Caucasian	EN	NRAS Q61R	2	Yes	No	Windswept deformity in lower extremities	Unilateral nevi; ipsilateral skeletal dysplasia	Healed rickets	No (f/u until age 9)	Brainstem lipoma; thyroid nodule; splenic hemangiomas
CSHS102	F	Caucasian	EN	HRAS G13R	1.5	Yes	Yes	Coxa vara; lower extremities bowing and deformities secondary to fractures	Unilateral nevi; ipsilateral skeletal dysplasia	Limited effect during childhood; improved labs and ↓ fracture in adolescence	Yes. Decrease of fracture rate, age 12 (f/u until age 14)	Subaortic valve stenosis
CSHS104	F	African American	CMN	NRAS Q61R	1.3	Yes	No	Upper and lower extremity bowing	Bilateral nevi; bilateral skeletal dysplasia	Initiation of ambulation; Improved labs	No (deceased at age 4 due to pericardial effusion)	CNS melanosis; ocular dermoid Pericardial effusion
CSHS105	M	Caucasian	EN	HRAS G13R	12	Yes	Yes	Pronounced leg length discrepancy	Unilateral nevi; bilateral skeletal dysplasia	↓ pain ↓ weakness	Yes. Resolution of mineral abnormalities at age 17 (f/u until age 19)	Colpocephaly body asymmetry
CSHS106	F	Hispanic	PPK	HRAS G13R	5	Yes	Yes	Bowing of lower extremities; leg length discrepancy	Bilateral nevi; bilateral skeletal dysplasia	Improved labs	No (f/u until age 14)	Body asymmetry

F female, M male, EN epidemral nevus, CMN congenital nrelanocytic nevus, PPK phakonratosis pignrentokeratotica, f/u follow-up, CNS central nervous system