Table 1.

Clinical and Genetic Characteristics of Nine Individuals with ACD

	Family A (Individuals 1–5)					Family Ba	Family Ca	Family D	Family E
	II-1	II-3b	II-4	II-5	II-7	Individual 6	Individual 7	Individual 8	Individual 9
Sex	female	male	female	male	female	male	male	male	female
Age at exam (years)	42	38	34	32	24	25	20	33	35
Age at onset (years)	2	10	3	2	7	8	9	13	6
Disease duration	40	28	31	30	17	17	11	20	29
Sites of skin lesions	face, neck, trunk, limbs, hands, feet	neck, trunk, limbs	face, neck, trunk, limbs, hands, feet	face, neck, trunk, limbs, hands, feet	neck, trunk, limbs	neck, trunk, limbs, hands, feet	neck, trunk, limbs, hands, feet	neck, trunk, limbs	face, neck, trunk, limbs
Abnormal mucous membrane, nails, teeth, hair, palm, and sole	–	–	–	–	–	–	–	–	–
Mild pruritus	–	–	+	–	+	–	–	–	–
Blister	+	+	+	+	–	–	–	–	–
Xerosis	+	+	+	+	+	+	+	+	+
Cytoskeratin in amyloid deositsc	ND	+	ND	ND	+	+	+	+	+
GPNMB Mutation
DNA mutation (exon)	c.565C>T (ex 5)					c.565C>T (ex 5)	c.565C>T (ex 5)	c.296del (ex 3)	c.719_720del (ex 6)
	c.660T>G (ex 5)					c.1056del (ex 7)	c.565C>T (ex 5)	c.565C>T (ex 5)	c.877_880del (ex 6)
Protein consequence	p.Arg189∗					p.Arg189∗	p.Arg189∗	p.Asn99Thrfs∗2	p.Val240Aspfs∗24
	p.Tyr220∗					p.Pro353Leufs∗20	p.Arg189∗	p.Arg189∗	p.Val293Profs∗6
Protein domain	NTD					NTD; b/w PKD & KRG	NTD	NTD	PKD

GenBank: NM_002510.2 and NP_002501.1. Abbreviations: plus and minus signs (+/–), with/without the symptom or sign; b/w, between; NTD, N-terminal domain; PKD, polycystic kidney disease-like domain; KRG, kringle-like domain; ND, not determined.

^aClinical findings in individual 6 and individual 7 were first partly published by one of us.³²

^bIndividual II-3 was mildly affected.

^cCytokeratin (34bE12) was detected in amyloid deposits in the papillary dermis.