Regina C. Betz, Rita M. Cabral, Angela M. Christiano, Eli Sprecher

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Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Regina C. Betz, Rita M. Cabral, Angela M. Christiano, Eli Sprecher Journal of Investigative Dermatology Volume 132, Issue 3, Pages 906-914 (March 2012) DOI: 10.1038/jid.2011.408 Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 DNA milestones timeline. Major discoveries and breakthroughs in genomic technologies over the past 50 years are shown, which have allowed the enormous advances in the field of inherited skin diseases as well as many other hereditary disorders. cDNA, complementary DNA; HD, Huntington disease; RFLP, restriction fragment length polymorphism; RNAi, RNA interference. Journal of Investigative Dermatology 2012 132, 906-914DOI: (10.1038/jid.2011.408) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical classification of inherited alopecias. Hair disorders featuring defective hair growth or differentiation can be classified into three major types: (a) total absence of hair termed atrichia as shown here in a patient with atrichia with papular lesions (APL); (b) paucity of hair known as hypotrichosis as shown in a young girl affected with hypotrichosis with juvenile macular dystrophy (HJMD); and (c) diseases caused by abnormal hair shaft structure such as monilethrix featuring short and easily breakable hair, displaying typical beading under the microscope (lower insert). Journal of Investigative Dermatology 2012 132, 906-914DOI: (10.1038/jid.2011.408) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Schematic representation of the hair cycle and hairless mRNA expression patterns. Two different intensities, low and high, are shown in dark pink and red, respectively, indicating lower and higher expression of hairless mRNA during late anagen–catagen–telogen progression in depilation-induced hair follicle cycling. (adapted from Panteleyev et al., 2000 and Shimomura and Christiano, 2010) Journal of Investigative Dermatology 2012 132, 906-914DOI: (10.1038/jid.2011.408) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Clinicogenetic classification of hypotrichoses. Using three clinical criteria, most patients with hypotrichosis can be assigned to a group of molecularly defined hair disorders. ANE, alopecia, neurological defects, and endocrinopathy; ARIH, autosomal recessive ichthyosis with hypotrichosis; DSG4, desmoglein 4; ED, ectodermal dysplasia; EDAR, ectodysplasin A receptor; EDARADD, EDAR-associated death domain; HJMD, hypotrichosis with juvenile macular dystrophy; HRSV, hypotrichosis with recurrent vesicles; KRT85, keratin 85; LIPH, lipase H; LPAR6, lysophosphatidic acid receptor 6; NTS, Netherton syndrome. Journal of Investigative Dermatology 2012 132, 906-914DOI: (10.1038/jid.2011.408) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 5 Overlapping phenotypes and pathogenesis in inherited hair disorders. The data that have accumulated over the past years suggest that most inherited hair disorders result from defective functions of biologically related pathways. This scheme summarizes the interactions known between the molecules defective in the various disorders mentioned in the text. Arrows symbolize a promoting effect, whereas perpendicular streaks denote an inhibitory effect. EDAR, ectodysplasin A receptor; EDARADD, EDAR-associated death domain; FZD, frizzled receptor; HK, hair keratins; Hr, hairless; LIPH, lipase H; LPA, lysophosphatidic acid; ODC, ornithine decarboxylase; PA, phosphatidic acid; P2RY5, P2Y purinoceptor 5 (also known as LPAR6, lysophosphatidic acid receptor 6); VDR, vitamin D receptor; WISE, context-dependent activator and inhibitor of Wnt signaling protein (also known as SOSTDC1, sclerostin domain containing 1); WNT, Wingless-type MMTV integration site family. Journal of Investigative Dermatology 2012 132, 906-914DOI: (10.1038/jid.2011.408) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions