Disease-specific health related quality of life patient reported outcome measures in Genodermatoses: a systematic review and critical evaluation

Table 3 Critical evaluation of development of Disease-Specific PROM using COSMIN criteria examined in this review

Condition	HR-QoL PROM	Study	Items	CTT / IRT	Internal Consistency	Reliability	Measurement Error	Content Validity	Structural Validity	Hypothesis Testing	Cross Cultural Validity	Criterion Validity
Congenital Ichthyosis	IQOL	13	32	CTT	Poor	/	/	Good	Poor	Good	/	N/A
Congenital Ichthyosis	FBI	14	25	CTT	Fair	Fair	/	Good	Good	Fair	Good	N/A
Pachyonychia Congenita	IPCRR	15–16	30	CTT	/	/	/	Poor	/	Poor	/	N/A
Pachyonychia Congenita	PC QOL	17	12	IRT	Good	Good	Good	Excellent	Good	Good	/	N/A
Darier Disease	DD-QOL	18	8	CTT	Poor	/	/	Poor	Poor	/	/	N/A
Neurofibromatosis Type 2	NFTI-QoL	19	8	CTT	Good	Poor	/	Good	Good	Good	/	N/A
HHT	EQ QOL	20	13	CTT	Good	Good	Good	Excellent	Good	Good	/	N/A
HHT	Psychosocial in HHT	21	71	CTT	/	/	/	Poor	/	/	/	N/A
Hereditary Angioedema	IHAE-QoL	22	11	CTT	Good	Good	Good	Good	Good	Good	/	N/A
Hereditary Angioedema	HAE-PRO	23	18		/	/	/	Excellent	/	/	Good	N/A
Epidermolysis Bullosa	QOLEB	12	17	CTT	Good	Good	Good	Excellent	Good	Good	Good	N/A
Epidermolysis Bullosa	EB-BoD	24	20	CTT	Good	Good	Good	Excellent	Good	Excellent	Good	N/A
Fabry Disease	FSPHPQ	25	40	CTT	Good	Good	Good	Excellent	Good	Good	Fair	N/A
Basal Cell Nevus Syndrome	BCCNS QoL (aBCCdex)	26–27	26	CTT	Good	Good	Good	Excellent	Good	Excellent	/	N/A
Peutz Jegher Syndrome	PJS QoL Questionnaire	28	31	CTT	Poor	Poor	/	Fair	Good	Fair	/	N/A

Abbreviations: IQOL (Ichthyosis QoL Questionnaire); FBI (Family Burden in Ichthyosis Questionnarie) IPCRR (International Pachynoychia Congenita Research Registry); DD-QOL (Darier Disease QoL Questionnaire); NFTI-QoL (Neurofibromatosis Type 2 Impact on QoL); HHT (Hereditary Haemorrhagic Telangiectasia); EQ-QOL (Epistaxis-specific QoL Questionnaire); IHAE-QoL (Inherited Angioedema QoL Questionnaire); FSPHPQ (Fabry Specific Pediatric Health and Pain Questionnaire) BCCNS (Basal Cell Carcinoma Nevus Syndrome); PJS (Peutz Jegher Syndrome)

ISSN: 1750-1172