Abstract
Disorders of cornification are a group of diseases that share abnormalities in the manufacture or desquamation of corneocytes. This paper reviews the major and a few of the rarer ones with a concentration on their therapy. Ichthyosis vulgaris is probably a post-translational defect in pro-filaggrin expresssion. It shows fine white flaky scales of the extensor surfaces, trunk, flank, lower legs but spares the folds and wet areas. Treatment is with aggressive moisturization. Hydrocortisone creams may be needed to control itch. Recessive X-linked ichthyosis is due to a deficiency of cholesteriol sulfatase. Boys with this condition show small dark scales around the ears, sides of the neck, extensor surfaces of the arms and legs, and the peri-umbilical region. It spares the folds and face. Treatment is with moisturizers, topical retinoid creams or with topical cholesterol-based creams. Checking for signs of contiguous gene disorders (Kallman or Conradi-Hunermann syndromes) is necessary. Bullous congenital ichthyosiform erythroderma is caused by mutations in keratins 1 and/or 10. These patients are born as bright red babies with large blisters and erosions. Slowly, a porcupine quill-like waxy scaling develops. Blistering continues throughout life. Secondary infections of the skin cause pain, debility, and a very foul odor. Treatment is difficult. Topical moisturizers, descalers and retinoid creams help a little. Oral retinoids help a lot but can cause increased blistering. Controlling the odor is an ongoing issue using antibacterial washes, absorbing powders, and masking fragrances. Autosomal recessive ichthyosis is a term for both lamellar ichthyosis and congential ishthysosiform erythroderma. They are caused by various mutations in transglutaminase-1 gene. In both instances patients are born as ‘collodion babies’. Lamella ichthyosis has the very recognizable plate-like scale over the entire body. Children with congential ishthysosiform erythroderma are red all over with a finer scale in some places and plate-like scales in others. Treatment is with topical moisturizers, retinoid creams, descalers, and in some cases oral retinoids. Palmar plantar keratodermas occur in conjunction with some ichthyoses, but also by themselves. Some are diffuse and others have discrete, corn-like hardenings. Treatment with topical acids, propylene glycol and retinoid creams help to some extent.
Throughout the article pearls from my practice are included to assist the clinician in the day-to-day handling of these patients. A short section on genetic counseling concludes this article.
Similar content being viewed by others
Notes
The use of tradenames is for product identification purposes only and does not imply endorsement.
References
Kimyai-Asadi A, Kotcher LB, Jih MH. The molecular basis of hereditary palmoplantar keratodermas. J Am Acad Dermatol 2002 Sep; 47: 327: 43
Irvine AD, McLean WHI. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol 1999; 140: 815–28
Feingold KR. The regulation and role of epidermal lipid synthesis. Adv Lipid Res 1991; 24: 57–82
Elias PM, Feingold KR. Lipids and the epidermal water barrier: metabolism, regulation, and pathophysiology. Semin Dermatol 1992; 11: 176–82
Wells RS, Kerr CS. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. BMJ 1966; 1: 947–50
Nirunsukiri W, Presland RB, Brumbaugh SG, et al. Decreased profilaggrin expression in ichthyosis vulgaris is a result of selectively impaired post-transcriptional control. J Biol Chem 1995; 270: 871–6
Blichmann C, Serup J. Effects of a single application of a moisturizer: evaporation of emulsion water, skin surface temperature, electrical conductance, electrical capacitance and skin surface (emulsion) lipids. Acta Derm Venereol (Stockh) 1989; 69: 327–30
Van Scott EJ, Yu RJ. Hyperkeratinization, corneocyte cohesion and alpha-hydroxy acids. J Am Acad Dermatol 1984; 11: 867–79
Thune P. The effects of detergents on hydration and skin surface lipids. Clin Dermatol 1966 Jan-Feb; 14 (1): 29–33
Zettersten EM, Ghadially R, Feingold KR, et al. Optimal ratios of topical stratum corneum lipids improve barrier recovery in chronically aged skin. J Am Acad Dermatol 1997; 37: 403–8
Jemec GBE, Wulf HC. Correlation between the greasiness and plasticizing effect of moisturizers. Acta Derm Venereol (Stockh) 1999; 79: 115–7
Hammarlund K, Nilsson GE, Oberg PA, et al. Transepidermal water loss in newborn infants: II. relation to activity and body temperature. Acta Paediatr Scand 1979 May; 68 (3): 371–6
Kontou-Fili K, Borici Mazi R, Kapp A, et al. Physical urticaria: classification and diagnostic guidelines: an EAACI position paper. Allergy 1997; 52: 504–13
Traupe H, Happle R. Clinical spectrum of steroid sulfatase deficiency: X-linked ichthyosis, birth complications and cryptorchidism. Eur J Pediatr 1983; 140
Traupe H. The ichthyoses: a guide to clinical diagnosis: genetic counseling and therapy. Berlin: Springer-Verlag, 1989: 54–78
Traupe H, Has C. The Conradi-Hunermann-Happle syndrome is caused by mutations in the gene that encodes the 8- 7 sterol isomerase and is biochemically related to CHILD syndrome. Eur J Dermatol 2000 Aug; 10 (6): 425–8
F.I.R.S.T. Foundation for Ichthyosis and Related Skin Types [online]. Available from URL: http://www.scalyskin.org/ [Accessed 2004 Jan 9]
Hofmann B, Stege H, Ruzikca T, et al. Effect of topical tazarotene in the treatment of congenital ichthyoses. Br J Dermatol 1999; 141: 642–6
Bruckner-Tuderman L, Sigg C, Geiger JM, et al. Acitretin in the symptomatic therapy for severe recessive x-linked ichthyosis. Arch Dermatol 1988 Apr; 124 (4): 529–32
Lykkesfeldt G, Hoyer H. Topical cholesterol treatment of recessive X-linked ichthyosis. Lancet 1983; II: 1357–8
Willan R. On cutaneous diseases. Vol 1. London: Barnard, 1808
Griffiths WAD, Judge MR, Leigh IM. Disorders of Keratinization. In: Champion RH, editor. Rook’s textbook of dermatology. 6th ed. Oxford: Blackwell Scientific Communications, 1998: 1483–588
Rothnagel JA, Dominey AM, Dempsey MD, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257: 1128–30
Kim JJ, Chang MW, Shwayder T. Topical tretinoin and 5-Fluorouracil in the treatment linear verrucous epidermal nevus. J Am Acad Dermatol 2000 Jul; 43 (1 Pt 1): 129–32
Shwayder T. A call of the loon. JAMA 1998 Oct 14; 280 (14): 1221–2
Fox GH. The alligator boy: a case of ichthyosis. J Cutan Vener Dis 1884 Apr; 2 (4)
Huber M, Rettle I, Berbasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267: 525–8
Hennies HC, Juster W, Wieve V, et al. Genotype-phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet 1998; 62: 1952–61
Shwayder TA. Ichthyosis in a nutshell. Pediatr Rev 1999 Jan; 20 (1): 5–12
Shwayder T, Ott F. All about ichthyosis. Pediatr Clin North Am 1991; 38 (4): 835–57
Van Gysel D, Lijnen FLP, Moekti SS, et al. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol 2002 Jan; 16: 472–5
Ganemo A, Virtanen M, Vahlquist A. Improved topical treatment of lamellar ichthyosis a double blind study of four different cream formulations. Br J Dermatol 1999; 141: 1027–32
Blanchet-Bardon C, Nazarro V, Rognin C, et al. Acitretin in the treatment of severe disorders of keratinization. J Am Acad Dermatol 1991; 24: 982–6
Shwayder T, Banerjee S. Netherton syndrome presenting as congenital psoriasis. Pediatr Dermatol 1997 Nov-Dec; 14 (6): 473–6
Suga Y, Tsuboi R, Hashimoto Y, et al. A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. J Am Acad Dermatol 2000 Mar; 42 (3): 520–2
Allen DM, Esterly NB. Significant systemic absorption of tacrolimus after topical application in a patient with lamellar ichthyosis. Arch Dermatol 2002 Sep; 138 (9): 1259–60
Allen A, Siegfried E, Silverman R, et al. Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. Arch Dermatol 2001 Jun; 137 (6): 747–50
Lucker GP, Steijlen PM. Acrokeratosis paraneoplastica (Bazex syndrome) occurring with acquired ichthyosis in Hodgkin’s disease. Br J Dermatol 1995; 13: 322–5
Williams ML, Feingold KR, Grubauer G, et al. Ichthyosis induced by cholesterol-lowering drugs. Arch Dermatol 1987; 123: 1535–7
Kuster W, Becker A. Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vorner. Thost’s family revisited 110 years later. Acta Derm Venereol (Stockh) 1992; 72: 120–2
Covello SP, Irvine AD, McKenna KE, et al. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol 1998; 111: 1207–9
Williams ML, Shwayder TA. Ichthyosis and disorders of cornification. In: Schachner LA, Hansen RC, editors. Pediatric dermatology. 2nd ed. New York (NY): Churchill Livingstone, 1965: 413–68
Lin TS. Transthoracic endoscopic sympathectomy for palmar hyperhidrosis in children and adolescents: analysis of 350 cases. J Lapar Rendosc Adv Surg Tech A 1999; 9: 331–4
Steijlen PM, Lucker GPH. Palmplantoar keratoses. In: Harper J, Oranje A, Prose N, editors. Textbook of pediatric dermatology, 2000. Blackwell Science: 1136–7
Acknowledgements
The author received no funding for the preparation of this review and has no conflicts of interest directly relevant to the content of this review.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Shwayder, T. Disorders of Keratinization. Am J Clin Dermatol 5, 17–29 (2004). https://doi.org/10.2165/00128071-200405010-00004
Published:
Issue Date:
DOI: https://doi.org/10.2165/00128071-200405010-00004