Table 1.

Thirty-Two Individuals with ECDS and PRS at CHHS

Name	Sex	Age of onset	Cutaneous involvement	Neurologic involvement	Neuroimaging findings
Patient 1	F	9y	Left ECDS	None	CT: ipsilateral focal scalp atrophy. MRI: N/A
Patient 2	M	4y	Right ECDS	Seizures Headaches Impaired cognition and memory Arm and leg pain and spasms (Patient has a history of Arnold-  Chiari I malformation s/p  craniectomy though many  symptoms could not be  attributed to prior abnormality  or surgery.)	CT: changes of suboccipital decompression for  Chiari I malformation; ipsilateral focal scalp  and calvarial atrophy MRI: changes of suboccipital decompression for  Chiari I malformation; no brain parenchymal  abnormality; ipsilateral focal scalp atrophy
Patient 3	F	1y	Right ECDS	None	N/A
Patient 4	M	11y	Right ECDS	None	CT: N/A MRI: no intracranial abnormality; ipsilateral focal  scalp atrophy
Patient 5	F	12y	Right ECDS	None	CT: N/A MRI: no intracranial abnormality; ipsilateral focal  scalp atrophy
Patient 6	F	10y	Right ECDS	None	N/A
Patient 7	F	10y	Left ECDS, right PRS	None	N/A
Patient 8	F	3y	Left ECDS	None	N/A
Patient 9	F	2y	Left ECDS	Headaches	CT: ipsilateral focal scalp atrophy MRI: no intracranial abnormality; ipsilateral  focal scalp atrophy
Patient 10	F	9y	Left ECDS	None	N/A
Patient 11	M	8y	LEFT ECDS and PRS	None	CT: N/A MRI: ipsilateral caudate nucleus heterogenous T2  signal (calcification or chronic blood products);  ipsilateral focal scalp and calvarial atrophy.
Patient 12	F	6y	Left ECDS	Behavioral issues	CT: N/A MRI: normal*
Patient 13^	F	5y	Left ECDS	Seizures	CT: N/A MRI: ipsilateral frontal T2 HI with patchy  enhancement
Patient 14	M	4y	Right ECDS	None	CT: N/A MRI: normal*
Patient 15	F	Unkno wn	Left ECDS and PRS	None	N/A
Patient 16	F	10y	Right ECDS and PRS	None	N/A
Patient 17	M	6y	Left ECDS	None	N/A
Patient 18	F	5y	Left ECDS	None	CT: N/A MRI: no intracranial abnormality; ipsilateral focal  scalp atrophy
Patient 19	F	3y	Left ECDS	Headaches	CT: N/A MRI: no intracranial abnormality;
Patient 20	M	5y	Right ECDS	None	N/A
Patient 21	F	9y	Left ECDS	None	N/A
Patient 22	M	13y	Right ECDS and PRS	None	CT: N/A MRI: no intracranial abnormality; hypoplastic  right maxilla
Patient 23	M	2y	Left ECDS	None	CT: N/A MRI: ipsilateral frontoparietal T2 HI; mild  effacement of sulci; ipsilateral focal scalp  atrophy
Patient 24^	F	4y	Left ECDS	Seizures	CT: N/A MRI: no intracranial abnormality; ipsilateral focal  scalp and calvarial atrophy
Patient 25	M	14y	Right ECDS and PRS	None	CT: N/A MRI: normal*
Patient 26	F	14y	Left ECDS	None	N/A
Patient 27	F	5y	Left ECDS	None	CT: N/A MRI: no intracranial abnormality
Patient 28	F	4y	Right ECDS and PRS; left ECDS	Tongue deviation	CT: no intracranial abnormality; ipsilateral scalp  atrophy MRI: N/A
Patient 29^	M	5y	Right ECDS	Strabismus (attributed to lateral  rectus muscle involvement) Slurred speech	CT: N/A MRI: no intracranial abnormality; focal scalp and  soft tissue atrophy; ipsilateral lateral rectus  muscle T2 HI
Patient 30	M	1y	Left ECDS and PRS	None	CT: ipsilateral lytic lesion with soft tissue  swelling MRI: soft tissue thickening with underlying  calvarial defect; mild effacement of sulci from  mass effect of the soft tissue lesion
Patient 31	F	15y	Left ECDS	None	CT: N/A MRI: no intracranial abnormality; ipsilateral focal  scalp atrophy
Patient 32	F	5y	Right and left ECDS	Bell’s palsy Facial weakness Sensory defects Dysmetria C7-8 radiculopathy	CT: N/A MRI: bilateral cerebellar T2 HI; right thalamic T2  HI; right focal scalp atrophy

HI = hyperintensity/hyperintensities

^{^}Previously reported by Holland et al.

^*MRI images not available for review.