Skip to main content

Disorders of Keratinization

  • Reference work entry
  • First Online:
Braun-Falco´s Dermatology
  • 171 Accesses

Abstract

“Cornification disorders” comprise the spectrum of diseases other than ichthyosis, which demonstrates an incorrect epidermal differentiation. These include palmoplantar keratodermas, erythrokeratodermia, follicular hyperkeratoses, acantholytic dyskeratoses, porokeratoses, and others.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

References

Palmoplantar Keratodermas

  • Abi Zamer B, Mahfood M, Saleh B et al (2019) Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family. Ann Hum Genet 83:472–476

    Article  CAS  PubMed  Google Scholar 

  • Avshalumova L, Fabrikant J, Koriakos A (2014) Overview of skin diseases linked to connexin gene mutations. Int J Dermatol 53:192–205

    Article  CAS  PubMed  Google Scholar 

  • Balestri R, Magnano M, Savoia F et al (2019) Alitretinoin for palmoplantar keratodermas: a novel case and review of the literature. Dermatol Ther 32:e12794

    Article  PubMed  Google Scholar 

  • Bergqvist C, Kadara H, Hamie L et al (2018) SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene. Int J Dermatol 57:162–170

    Article  CAS  PubMed  Google Scholar 

  • Braun-Falco M (2009) Hereditäre Palmoplantarkeratosen. J Dtsch Dermatol Ges 7:971–984

    PubMed  Google Scholar 

  • Catunda R, Rekhi U, Clark D et al (2019) Loricrin downregulation and epithelial-related disorders: a systematic review. J Dtsch Dermatol Ges 17:1227–1238

    PubMed  Google Scholar 

  • De Azevedo TP, Sodré CT, Santangelo CL et al (2019) Spiny keratoderma: report of three cases. J Cosmet Dermatol. https://doi.org/10.1111/jocd.13248

  • Elhaji Y, Hedlin C, Nath A et al (2020) AAGAB mutations in 18 Canadian families with punctate palmoplantar keratoderma and a possible link to cancer. J Cutan Med Surg 24:28–32

    Article  CAS  PubMed  Google Scholar 

  • Greco C, Leclerc-Mercier S, Chaumon S et al (2020) Use of epidermal growth factor receptor inhibitor erlotinib to treat palmoplantar keratoderma in patients with Olmsted syndrome caused by TRPV3 mutations. JAMA Dermatol 156:191–195

    Article  PubMed  PubMed Central  Google Scholar 

  • Guerra L, Castori M, Didona B et al (2018a) Hereditary palmoplantar keratodermas. I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features. J Eur Acad Dermatol Venereol 32:704–719

    Article  CAS  PubMed  Google Scholar 

  • Guerra L, Castori M, Didona B et al (2018b) Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – diagnostic algorithm and principles of therapy. J Eur Acad Dermatol Venereol 32:899–925

    Article  CAS  PubMed  Google Scholar 

  • Günther C, Lee-Kirsch MA, Eckhard J et al (2018) SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility. J Invest Dermatol 138:1428–1431

    Article  PubMed  Google Scholar 

  • Ishida-Yamamoto A, Igawa S, Kishibe M (2018) Clinical and molecular implications of structural changes to desmosomes and corneodesmosomes. J Dermatol 45:385–389

    Article  CAS  PubMed  Google Scholar 

  • Li Y, Tang L, Han Y et al (2018) Genetic analysis of KRT9 gene revealed previously known mutations and genotype-phenotype correlations in epidermolytic palmoplantar keratoderma. Front Genet 9:645

    Article  CAS  PubMed  Google Scholar 

  • Lilly E, Bunick Ch B, Maley AM et al (2019) More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations. J Am Acad Dermatol 80:617–625

    Article  CAS  PubMed  Google Scholar 

  • Lovgren ML, McAleer MA, Irvine AD et al (2017) Mutations in desmoglein-1 cause various inherited palmoplantar keratoderma phenotypes: implications for genetic screening. Br J Dermatol 176:1345–1350

    Article  CAS  PubMed  Google Scholar 

  • Machado RA, Cuadra-Zelaya FJM, Martelli-Júnior H et al (2019) Clinical and molecular analysis in Papillon-Lefèvre syndrome. Am J Med Genet A 179:2124–2131

    Article  CAS  PubMed  Google Scholar 

  • Maruthappu T, Posafalvi A, Castelletti S et al (2019) Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. Br J Dermatol 180:1114–1122

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Onnis G, Bourrat E, Jonca N et al (2018) KLICK syndrome: an unusual phenotype. Br J Dermatol 178:1445–1446

    Article  CAS  PubMed  Google Scholar 

  • Ramsay M, Ngcungcu T, Grayson W (2019) Keratolytic winter erythema: an update. Dermatopathology 26:126–132

    Article  Google Scholar 

  • Richey PM, Stone MS (2019) Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia. JAAD Case Rep 5:219–222

    Article  PubMed  PubMed Central  Google Scholar 

  • Smith FJ, Kreuser-Genis IM, Jury CS et al (2019) Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. Clin Exp Dermatol 44:528–534

    Article  CAS  PubMed  Google Scholar 

  • Vázquez-Osorio I, Chmel N, Rodríguez-Díaz E et al (2017) A case of mosaicism in ectodermal dysplasia-skin fragility syndrome. Br J Dermatol 177:e101–e102

    Article  PubMed  Google Scholar 

  • Youssefian L, Vahidnezhad H, Saeidian AH et al (2019) A novel autosomal recessive GJB2-associated disorder: ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Hum Mutat 40:217–229

    Article  CAS  PubMed  Google Scholar 

  • Zimmermann CE, Soufi M, Ruppert V et al (2019) Schöpf-Schulz-Passarge syndrome: previously unreported WNT10A genotype and phenotypes in 9 family members. Acta Derm Venereol 99:113–114

    CAS  PubMed  Google Scholar 

Follicular Keratoses

  • Bains A, Vedant D, Verma A et al (2019) Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: a case report and review of cases reported from India. Indian Dermatol Online J 10:686–691

    Article  PubMed  PubMed Central  Google Scholar 

  • Chen C, Xu C, Li H et al (2019) Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. Int J Dermatol 58:493–496

    Article  PubMed  Google Scholar 

  • Lee YC, Son SJ, Han TY, Lee JH (2018) A case of atrophoderma vermiculatum showing a good response to topical tretinoin. Ann Dermatol 30:116–118

    Article  PubMed  Google Scholar 

  • Morton CM, Bhate C, Janniger CK, Schwartz RA et al (2014) Ulerythema ophryogenes: updates and insights. Cutis 93:83–87

    PubMed  Google Scholar 

  • Turegano MM, Sperling LC (2017) Lichenoid folliculitis: a unifying concept. J Cutan Pathol 44:647–654

    Article  PubMed  Google Scholar 

  • Uehara A, Abe M, Shimizu A et al (2015) Successful treatment of lichen spinulosus with topical adapalene. Eur J Dermatol 25:490–491

    Article  CAS  PubMed  Google Scholar 

  • Wang JF, Orlow SJ (2018) Keratosis pilaris and its subtypes: associations, new molecular and pharmacologic etiologies, and therapeutic options. Am J Clin Dermatol 19:733–757

    Article  PubMed  Google Scholar 

Dyskeratotic–Acantholytic Keratoses

  • Ben Lagha I, Ashack K, Khachemoune A (2020) Hailey-Hailey disease: an update review with a focus on treatment data. Am J Clin Dermatol 21:49–68

    Article  PubMed  Google Scholar 

  • Boehmer D, Eyerich K, Darsow U, Biedermann T, Zink A (2019) Variable response to low-dose naltrexone in patients with Darier disease: a case series. J Eur Acad Dermatol Venereol 33:950–953

    Article  CAS  PubMed  Google Scholar 

  • Gantz M, Butler D, Goldberg M (2017) Atypical features and systemic associations in extensive cases of Grover disease: a systematic review. J Am Acad Dermatol 77:952–957

    Article  PubMed  Google Scholar 

  • Lencastre A, Campos S, Cabete J (2016) Warty dyskeratoma. J Am Acad Dermatol 75:e97–e98

    Article  PubMed  Google Scholar 

  • Li W, Xu H, He Y et al (2019) Comorbidities or different entities? Phenotype variability associated with PSENEN mutations. Br J Dermatol 180:221–222

    Article  CAS  PubMed  Google Scholar 

  • Maddala RR, Ghorpade A, Polavarpu M et al (2016) Familial dyskeratotic comedones: a rare entity. Indian Dermatol Online J 7:46–48

    Article  PubMed  PubMed Central  Google Scholar 

  • Nellen RG, Steijlen PM, van Steensel MA (2017) Mendelian disorders of cornification caused by defects in intracellular calcium pumps: mutation update and database for variants in ATP2A2 and ATP2C1 associated with Darier disease and Hailey-Hailey disease. Hum Mutat 38:343–356

    Article  CAS  PubMed  Google Scholar 

  • Prabha N, Chhabra N, Kulkarni S, Hussain N (2018) Familial dyskeratotic Comedones. Skinmed 16:273–274

    PubMed  Google Scholar 

Porokeratoses

  • Atzmony L, Lim YH, Hamilton C (2020) Topical cholesterol/lovastatin for the treatment of porokeratosis: a pathogenesis-directed therapy. J Am Acad Dermatol 82:123–131

    Article  CAS  PubMed  Google Scholar 

  • Kubo A, Sasaki T, Suzuki H et al (2019) Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form Porokeratosis in MVD or MVK mutant heterozygotes. J Invest Dermatol 139:2458–2466

    Article  CAS  PubMed  Google Scholar 

  • Liu W, Liu JW, Ma DL (2019) Porokeratosis ptychotropica. JAMA Dermatol 155:845

    Article  PubMed  Google Scholar 

  • Song NJ, Luan J, Zhang ZH (2017) Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli. Clin Exp Dermatol 42:910–911

    Article  CAS  PubMed  Google Scholar 

  • Weidner T, Illing T, Miguel D, Elsner P (2017) Treatment of porokeratosis: a systematic review. J Clin Dermatol 18:435–449

    Article  Google Scholar 

Other Keratoses

  • Giacaman-von der Weth MM, Partarrieu-Mejías F, Ferrer-Guillén B, Hernández-Bel P (2019) Circumscribed palmar hypokeratosis. J Cutan Pathol 46:713–716

    Article  PubMed  Google Scholar 

  • Sander D, Dietmaier W, Wobser M, Haferkamp S (2018) Hyperkeratosis of the nipple and areola: a histopathologic pitfall. J Dtsch Dermatol Ges 16:1368–1370

    PubMed  Google Scholar 

  • Zhang H, Miao C, Zhang X (2018) Hyperkeratosis lenticularis perstans in a patient with primary hyperaldosteronism. J Dtsch Dermatol Ges 16:72–73

    PubMed  Google Scholar 

First Describer: Palmoplantar Keratoderma

  • Arnold HL (1947) Hyperkeratosis penetrans: report of a case of a possible variant of Kyrle’s disease. Arch Dermatol Syphilol 55:633–638

    Article  Google Scholar 

  • Brauer A (1913) Über eine besondere Form des hereditären Keratoms (Keratoma dissipatum hereditarium palmare et plantare). Arch Dermatol Syph 114:211–236

    Article  Google Scholar 

  • Brown F (1971) Punctate keratoderma. Arch Dermatol 104:682–683

    Article  CAS  PubMed  Google Scholar 

  • Brünauer SR (1923) Zur Vererbung des Keratoma hereditarium palmare et plantare. Acta Derm Venereol 4:489–503

    Google Scholar 

  • Buschke A, Fischer W (1906) Keratodermia maculosa disseminata symmetrica palmaris et plantaris. In: Neisser A, Jacobi E (eds) Ikonographia dermatologica, Bd 1. Urban & Schwarzenberg, Berlin, pp 183–192

    Google Scholar 

  • Camisa C, Rossana C (1984) Variant of keratoderma hereditaria mutilans (Vohwinkel’s syndrome). Treatment with orally administered isotretinoin. Arch Dermatol 120:1323–1328

    Article  CAS  PubMed  Google Scholar 

  • Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39:418–421

    Article  CAS  PubMed  Google Scholar 

  • Cole LA (1976) Hypopigmentation with punctate keratosis of the palms and soles. Arch Dermatol 112:998–1000

    Article  CAS  PubMed  Google Scholar 

  • Findlay GH, Nurse GT, Heyl T et al (1977) Keratolytic winter erythema or ‘Oudtshoorn skin’: a newly recognized inherited dermatosis prevalent in South Africa. S Afr Med J 52:871–874

    CAS  PubMed  Google Scholar 

  • Fuhs H (1924) Zur Kenntnis der herdweisen Keratosen an Händen und Füssen. Acta Derm Venereol 5:11–58

    Google Scholar 

  • Gamborg Nielsen P (1985) Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. Clin Genet 28:361–366

    Article  CAS  PubMed  Google Scholar 

  • Goldstein N (1967) Multiple minute digitate hyperkeratosis. Arch Dermatol 96:692–693

    Article  CAS  PubMed  Google Scholar 

  • Gorlin RJ (1976) Focal palmoplantar and marginal gingival hyperkeratosis: a syndrome. Birth Defects Orig Artic Ser 12:239–242

    CAS  PubMed  Google Scholar 

  • Greither A (1952) Keratosis extremitatum hereditaria progrediens mit dominantem Erbgang. Hautarzt 3:198–203

    CAS  PubMed  Google Scholar 

  • Haim S, Munk J (1965) Keratosis palmo-plantaris congenita with periodontosis, arachnodactyly and a peculiar deformity of the terminal phalanges. Br J Dermatol 77:42–52

    Article  CAS  PubMed  Google Scholar 

  • Howel-Evans W, McConnell RB, Clarke CA et al (1958) Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis): a study of two families. Q J Med 27:413–429

    CAS  PubMed  Google Scholar 

  • Huriez C, Deminatti M, Agache P et al (1968) A propos de 28 cas d’epidermolyse bulleuse dans 11 familles dont une famille etudiee du point de une genetique, sans mise en evidence de linkage. Bull Soc Fr Dermatol Syphiligr 75:750–755

    CAS  PubMed  Google Scholar 

  • Kabashima K, Sakabe J, Yamada Y, Tokura Y (2008) “Nagashima-type” keratosis as a novel entity in the palmoplantar keratoderma category. Arch Dermatol 144:375–379

    Article  CAS  PubMed  Google Scholar 

  • McGrath JA, McMillan JR, Shemanko CS et al (1997) Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 17:240–244

    Article  CAS  PubMed  Google Scholar 

  • Olmsted HC (1927) Keratodermia palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location. Am J Dis Child 33:757–764

    Article  Google Scholar 

  • Papillon MM, Lefèvre P (1924) Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur. Coexistence dans les deux cas d’altérations dentaires graves. Bull Soc Fr Dermatol Syphiligr 31:82–87

    Google Scholar 

  • Phillips B (1947) A case of keratodermia punctata. Br Med J 2:689

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Protonotarios N, Tsatsopoulou A, Patsourakos P et al (1986) Cardiac abnormalities in familial palmoplantar keratosis. Br Heart J 56:321–326

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pujol R, Moreno A, Alomar A, de Moragas JM (1989) Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma. Arch Dermatol 125:103–106

    Article  CAS  PubMed  Google Scholar 

  • Roth W, Penneys NS, Fawcett N (1978) Hereditary painful callosities. Arch Dermatol 114:591–592

    Article  CAS  PubMed  Google Scholar 

  • Schöpf E, Schulz HJ, Passarge E (1971) Syndrome of cystic eyelids, palmoplantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser 7:219–221

    PubMed  Google Scholar 

  • Siemens HW (1929) Keratosis palmaris-plantaris striata. Arch Dermatol Syph (German) 157:392–408

    Article  Google Scholar 

  • Stulli L (1826) Di una varieta cutanea. Lettera al direttore dell’Antologia. Estratti dall Antologia di Firenze, No 71–72, Florence, pp 1–3

    Google Scholar 

  • Thost A (1880) Ueber erbliche Ichthyosis palmaris et plantaris cornea. Medizinische Dissertation, Universität Heidelberg

    Google Scholar 

  • Unna PG (1883) Ueber das Keratoma palmare et plantare hereditarium. Arch Dermatol Syph 15:231–270

    Article  Google Scholar 

  • Vahlquist A, Ponten F, Pettersson A (1997) Keratosis linearis with ichthyosis congenital and sclerosing keratoderma (KLICK syndrome): a rare, autosomal recessive disorder of keratohyaline formation? Acta Dermatol Venereol (Stockh) 77:225–227

    CAS  Google Scholar 

  • Vohwinkel KH (1929) Keratoma hereditarium mutilans. Arch Dermatol Syph 158:354–364

    Article  Google Scholar 

  • Vörner H (1901) Zur Kenntnis des Keratoma hereditarium palmare et plantare. Arch Dermatol Syph 56:3–31

    Article  Google Scholar 

  • Wachters DHJ, Frensdor EL, Hausmann R et al (1983) Keratosis palmoplantaris nummularis (hereditary painful callosities). J Am Acad Dermatol 9:204–209

    Article  CAS  PubMed  Google Scholar 

Follicular Keratoses

  • Crocker AC (1902) Society intelligence Dermatological Society of London April 1902. Br J Dermatol 14:127–140. (Auf Seite 132 steht: Dr. Radcliffe-Crocker showed a case of Lichen pilaris seu spinulosa in a boy)

    Google Scholar 

  • Darier J (1920) Atrophodermie vermiculeé des joues avec kératoses folliculaires. Bull Soc Fr Dermatol Syphiligr 27:345–350

    Google Scholar 

  • Gans O (1925) Histologie der Hautkrankheiten, Bd 1. Springer, Berlin, p 63

    Book  Google Scholar 

  • Lameris HJ (1905) Ichthyosis follicularia. Ned Tijdschr Geneeskd 2:1524

    Google Scholar 

  • Lutz HC (1860) De l’hypertrophie générale du système sébacé. Paris, Thèse No. 65

    Google Scholar 

  • Siemens HW (1926) Keratosis follicularis spinulosa decalvans. Arch Dermatol Syph 151:384–386

    Article  Google Scholar 

  • Tänzer P (1889) Über das Ulerythema ophryogenes, eine noch nicht beschriebene Hautkrankheit. Monatsheft Prakt Dermatol 8:197–208

    Google Scholar 

  • Unna PG (1894) Ulerythema acneiforme. In: Die Histopathologie der Hauterkrankungen. Hirschwald, Berlin, pp 1102–1104

    Google Scholar 

Dyskeratotic–Acantholytic Keratoses

  • Darier J (1889) Psorospermose folliculaire végétante. Ann Dermatol Syph 10:597–612

    Google Scholar 

  • Grover RW (1970) Transient acantholytic dermatosis. Arch Dermatol 101:426–434

    Article  CAS  PubMed  Google Scholar 

  • Hailey H, Hailey H (1939) Familial benign chronic pemphigus. Arch Dermatol 39:679–685

    Article  Google Scholar 

  • Hopf G (1931) Über eine bisher nicht beschriebene disseminierte Keratose (Akrokeratosis verruciformis). Dermatol Z 60:227–250

    Article  Google Scholar 

  • Rodin HH, Blankenship ML, Bernstein G (1967) Diffuse familial comedones. Arch Dermatol 95:145–146

    Google Scholar 

  • White JC (1889) A case of keratosis (ichthyosis) follicularis. J Cutan Dis 7:201–209

    Google Scholar 

Porokeratoses

  • Chernosky ME, Freeman RG (1967) Disseminated superficial actinic porokeratosis (DSAP). Arch Dermatol 96:611–624

    Article  CAS  PubMed  Google Scholar 

  • Guss SB, Osbourn RA, Lutzner MA (1971) Porokeratosis plantaris, palmaris et disseminata. A third type of porokeratosis. Arch Dermatol 104:366–373

    Article  CAS  PubMed  Google Scholar 

  • Mibelli V (1893) Forme non commune de Keratodermie: “Porokeratosis”. In: Unna PG, Morris M, Leloir H et al (eds) Internationaler Atlas seltener Hautkrankheiten. Voss/Lewis/Masson, Hamburg/London/Paris. IX (1893:1), pp 5–10, plate XXVII

    Google Scholar 

  • Neumann I (1875) Ueber eine noch wenig bekannte Hautkrankheit (Dermatitis circumscripta herpetiformis). Vierteljahresschr Dermatol Syph. Neue Folge. Arch Dermatol Syph 7:41–52

    Google Scholar 

  • von Köckritz A, Kingreen V, Schaller J (2016) Keratotic papules and plaques in the genitogluteal region. J Dtsch Dermatol Ges 14(8):847–849

    Google Scholar 

Other Cornification Disorders

  • Flegel H (1958) Hyperkeratosis lenticularis perstans. Hautarzt 9:362–364

    Google Scholar 

  • Perez A, Rütten A, Gold R et al (2002) Circumscribed palmar or plantar hypokeratosis: a distinctive epidermal malformation of the palms or soles. J Am Acad Dermatol 47:21–27

    Article  PubMed  Google Scholar 

  • Tauber (1923) Zentralbl Gynakol 1178 (cited incorrectly in Oberste-Lehn H 1950) Hyperkeratosen im Bereich vom Mamille und Areola. Z Haut Geschlechtskr 8:388–393

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Markus Braun-Falco .

Editor information

Editors and Affiliations

Section Editor information

Rights and permissions

Reprints and permissions

Copyright information

© 2022 Springer-Verlag GmbH Germany, part of Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Braun-Falco, M. (2022). Disorders of Keratinization. In: Plewig, G., French, L., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco´s Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63709-8_61

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-63709-8_61

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-63708-1

  • Online ISBN: 978-3-662-63709-8

  • eBook Packages: MedicineReference Module Medicine

Publish with us

Policies and ethics