Abstract
Hereditary keratinization disorders are inherited skin diseases characterized by abnormal keratinization. The formation of an abnormal stratum corneum and hyperkeratotic skin lesions are the common characteristics of this group of diseases. In some of these disorders, the mechanism of hyperkeratosis has been elucidated. Increased production (proliferation hyperkeratosis) and increased adhesiveness of the stratum corneum (retention hyperkeratosis) define the two main pathophysiologic subdivisions of scaling diseases.
Acquired cases of keratinization disorders are seen in association with inflammatory disorders, systemic disorders, infectious disorders, and medication.
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Alikhan A, Burns T, Zargari O (2010) Punctate porokeratotic keratoderma. Dermatol Online J 16(1):13
Ang-Tiu CU, Nicolas ME (2012) Ichthyosis bullosa of Siemens. J Dermatol Case Rep 6(3):78–81
Bhobe M, Tambe S, Jerajani H, Parulkar P (2016) Keratoelastoidosis marginalis of the hands: a report in two farmers. Indian Dermatol Online J 7(3):195–197
Bianchi L, Orlandi A, Iraci S, Spagnoli LG, Nini G (1994) Punctate porokeratotic keratoderma – its occurrence with internal neoplasia. Clin Exp Dermatol 19(2):139–141
Bindu PS (2020) Sjogren-Larsson Syndrome: mechanisms and management. Appl Clin Genet 13:13–24
Blomquist HK, Bäck O, Fagerlund M, Holmgren G, Stecksén-Blicks C (1991) Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair. Acta Paediatr Scand 80(12):1241–1245
Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF (2018) Generalized ichthyotic peeling skin syndrome due to FLG2 mutations. J Invest Dermatol 138(8):1881–1884
Bolognia JL, Schaffer JV, Duncan KO, Ko CJ (2014) Ichthyoses and erythrokeratodermas. In: Dermatology essentials, pas de num d’édition. Elsevier, Amsterdam, pp 402–413
Boskabadi H, Maamouri G, Mafinejad S (2013) Netherton syndrome, a case report and review of literature. Iran J Pediatr 23(5):611–612
Bowden PE (2011) Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 131(3):561–564
Brady MF, Rawla P (2020) Acanthosis nigricans. [Updated 2020 Aug 8]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK431057/
Bragg J, Rizzo C, Mengden S (2008) Striate palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome). Dermatol Online J 14(5):26
Brinster NK, Liu V, Diwan AH, McKee PH (2011) Darier disease (keratosis follicularis). In: Dermatopathology: Volume in the high-yield pathology series, 1st edn. Elsevier, Amsterdam, p 68
Brown F, Badri T (2020) Pityriasis Rubra Pilaris. [Updated 2020 Jun 29]. In: StatPearls [Internet]. Treasure Island: StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK482436/
Chander R, Jabeen M, Barara M, Kataria D (2014) Progressive symmetric erythrokeratoderma with unusual associations. Indian J Dermatol 59(3):317
Chintagunta S, Jaju P (2020) Keratosis follicularis spinulosa decalvans: A dermoscopic perspective. Indian J Paediatr Dermatol 21(2):138–141
Chouk C, Litaiem N (2020) Erythrokeratodermia Variabilis. [Updated 2020 Jun 4]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK541080/
Corral M, Paret C, Iglesias M, Amores E, Fernández MT, Salleras M (2020) Spiny keratoderma. Dermatol Online J 26(9):13030/qt8j43s926
Danielsen AG, Weismann K, Thomsen HK (2001) Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark. J Eur Acad Dermatol Venereol 15(3):255–256
Dutra LA, Braga-Neto P, Pedroso JL, Povoas Barsottini OG (2012) Sjogren-Larsson syndrome. Adv Exp Med Biol 724:344–350
Engin B, Kutlubay Z, Erkan E, Tüzün Y (2015) Darier disease: a fold (intertriginous) dermatosis. Clin Dermatol 33(4):448–451
Feldmeyer L, Mevorah B, Grzeschik KH, Huber M, Hohl D (2006) Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). Br J Dermatol 154(4):766–769
Fontao L, Laffitte E, Briot A, Kaya G, Roux-Lombard P, Fraitag S, Hovnanian AA, Saurat JH (2011) Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin. J Invest Dermatol 131(9):1947–1950
Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA (2017) Improved management of Harlequin ichthyosis with advances in neonatal intensive care. Pediatrics 139(1):e20161003
Guaraldi Bde M, Jaime TJ, Guaraldi Rde M, Melo DF, Nogueira OM, Rodrigues N (2013) Progressive symmetrical erythrokeratodermia – case report. An Bras Dermatol 88(1):109–112
Hohl D (2012) Darier disease and Hailey-Hailey disease. In: Bolognia J, Jorizzo J, Schaffer J (eds) Dermatology, 3rd edn. Elsevier, Amsterdam, pp 887–897
Huntington MK, Jassim AD (2006) Genetic heterogeneity in keratolytic winter erythema (Oudtshoorn skin disease). Arch Dermatol 142(8):1073–1074
Ibekwe PU, Ogunbiyi AO (2020) Marginal acrokeratoderma: a case series. Int J Res Dermatol 6(5):670–675
Ilhan M, Erbaydar T, Akdeniz N, Arslan S (2005) Palmoplantar keratoderma is associated with esophagus squamous cell cancer in Van region of Turkey: a case control study. BMC Cancer 5:9
Jambhekar SD, Dhongade AR (2008) Tay syndrome. Indian J Pediatr 75(3):288–920
Judge MR, Mclean WH, Munro CS (2004) Disorders of keratinization. In: Burns T, Breathnach S, Cox N, Griffiths C (eds) Rook’s Textbook of dermatology, 7th edn. London and Edinburg: Blackwell, USA
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A (2019) Chanarin-Dorfman syndrome. Turk J Gastroenterol 30(1):105–108
Kawai K, Fukushige T, Sakanoue M, Kanekura T (2010) Striate palmoplantar keratoderma. J Dermatol 37(9):854–856
Kiprono SK, Chaula BM, Naafs B, Masenga JE (2012) Acral peeling skin syndrome in two East-African siblings: case report. BMC Dermatol 12:2
Kolb-Mäurer A, Grzeschik KH, Haas D, Bröcker EB, Hamm H (2008) Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. Acta Derm Venereol 88(1):47–51
Lacarrubba F, Boscaglia S, Nasca MR, Caltabiano R, Micali G (2017) Grover’s disease: dermoscopy, reflectance confocal microscopy and histopathological correlation. Dermatol Pract Concept 7(3):51–54
Le C, Bedocs PM (2020) Confluent and reticulated Papillomatosis. [Updated 2020 Aug 10]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK459130/
Malvankar DD, Sacchidanand S (2015) Keratosis follicularis spinulosa decalvans: a report of three cases. Int J Trichology 7(3):125–128
Martin KL (2016) Disorders of keratinization. In: Kliegman R, Stanton BF, Geme JS, Schor N (eds) Nelson textbook of pediatrics, 20th edn. Elsevier, pp 3168–3175.e1
Musumeci S, D’Agata A, Romano C, Patané R, Cutrona D (1988) Ichthyosis and neutral lipid storage disease. Am J Med Genet 29(2):377–382
Nayak S, Acharjya B, Mohanty P (2013) Ichthyosis hystrix. Indian Dermatol Online J 4(1):47–49
Nousari HC, Kimyai-Asadi A, Pinto JL (2000) KID syndrome associated with features of ichthyosis hystrix. Pediatr Dermatol 17(2):115–117
Oakley A (2018) Keratolysis exfoliativa. In: DermNet. Resource document. https://dermnetnz.org/topics/keratolysis-exfoliativa/. Accessed 8 November 2020
Patel S, Zirwas M, English JC 3rd (2007) Acquired palmoplantar keratoderma. Am J Clin Dermatol 8(1):1–11
Patterson JW (2016) Disorders of epidermal maturation and keratinization. In: Weedon’s skin pathology, 4th edn. Elsevier, Amsterdam, pp 281-320.e24
Pennycook KB, McCready TA (2020) Keratosis Pilaris. [Updated 2020 Jun 29]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK546708/
Quirk CJ, Heenan PJ (2004) Grover’s disease: 34 years on. Australas J Dermatol 45(2):83–86. quiz 87–8
Ramphul K, Kota V, Mejias SG (2020) CHILD Syndrome. [Updated 2020 Jun 27]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK507813/
Ramsay M, Ngcungcu T, Grayson W (2019) Keratolytic winter erythema: an update. Dermatopathology (Basel) 6(2):126–132
Richard G, Ringpfeil F (2012) Ichthyoses, erythrokeratodermas and related Disorders. In: Bolognia J, Jorizzo J, Schaffer J (eds) Dermatology, 3rd edn. Elsevier, Amsterdam, pp 837–870
Riley CA, Badri T, Hafsi W (2020) Pityriasis rotunda. [Updated 2020 Sep 15]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK459240/
Rongioletti F, Betti R, Crosti C, Rebora A (1994) Marginal papular acrokeratodermas: A unified nosography for focal acral hyperkeratosis, acrokeratoelastoidosis and related disorders. Dermatology 188(1):28–31
Saleem HMK, Shahid MF, Shahbaz A, Sohail A, Shahid MA, Sachmechi I (2018) Netherton syndrome: a case report and review of literature. Cureus 10(7):e3070
Salmon-Ehr V, Grosieux C, Derancourt C, Durlach A, Kalis B, Bernard P (1998) Palmoplantar filiform hyperkeratosis with Darier’s disease. Association or coincidence? Eur J Dermatol 8(7):519–520
Sharma S, Mahajan VK (2011) Collodion baby. Indian Dermatol Online J 2(2):133
Simalti AK, Sethi H (2017) Collodion Baby. Med J Armed Forces India 73(2):197–199
Stanway A (2005a) Diffuse hereditary palmoplantar keratodermas. In: DermNet. Resource document. https://dermnetnz.org/topics/diffuse-hereditary-palmoplantar-keratodermas/. Accessed 7 Nov 2020
Stanway A (2005b) Hereditary focal palmoplantar keratoderma. In: DermNet. Resource document. https://dermnetnz.org/topics/hereditary-focal-palmoplantar-keratoderma/. Accessed 7 Nov 2020
Takeichi T, Akiyama M (2016) Inherited ichthyosis: non-syndromic forms. J Dermatol 43(3):242–251
Torres G, Behshad R, Han A, Castrovinci AJ, Gilliam AC (2008) “I forgot to shave my hands”: a case of spiny keratoderma. J Am Acad Dermatol 58(2):344–348
Ugonabo N, Turck M, Burgin S (2019) Acquired ichthyosis in adult. Resource document. https://www.visualdx.com/visualdx/diagnosis/acquired+ichthyosis?diagnosisId=52684&moduleId=101. Accessed 6 Nov 2020
van Geel M, van Steensel MA, Küster W, Hennies HC, Happle R, Steijlen PM, König A (2002) HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol 146(6):938–942
Wanders RJA, Waterham HR, Leroy BP (2015) Refsum disease. 2006 Mar 20 [Updated 2015 Jun 11]. In: Adam MP, Ardinger HH, Pagon RA, et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, Seattle; 1993–2020. https://www.ncbi.nlm.nih.gov/books/NBK1353/
White KL (2002) Striate palmoplantar keratoderma. Dermatol Online J 8(2):16
Williams GM, Fillman EP (2020) Porokeratosis. [Updated 2020b Aug 11]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK532290/
Williams GM, Lincoln M (2020) Acrokeratosis verruciformis of Hopf. [Updated 2020a May 24]. In: StatPearls [Internet]. StatPearls Publishing, Treasure Island. https://www.ncbi.nlm.nih.gov/books/NBK537250/
Xu YC, Hou JQ, Zhu WJ, Li P (2020) Sjogren-Larsson syndrome associated hypermelanosis. J Cosmet Dermatol 19(4):789–798
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Souissi, A. et al. (2021). Disorders of Keratinization. In: Smoller, B., Bagherani, N. (eds) Atlas of Dermatology, Dermatopathology and Venereology . Springer, Cham. https://doi.org/10.1007/978-3-319-45134-3_23-1
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