Cohen, G. et al. Epidermal growth factor receptor signaling is up-regulated in human colonic aberrant crypt foci. Cancer Res. 66, 5656–5664 (2006). Covaciu, C., Castori, M., De Luca, N., Ghirri, P., Nannipieri, A., Ragone, G., Zambruno, G., Castiglia, D. hyperkeratosis. Am J Hum Genet. 1994 Feb;54(2):179-90. Citation on PubMed or Free article on PubMed Central Chang, H.-C. et al. BLIMP1 transcriptionally induced by EGFR activation and post-translationally regulated by proteasome and lysosome is involved in keratinocyte differentiation, migration and inflammation. J. Dermatol. Sci. 92, 151–161 (2018).

Herro, R., Antunes, R. D. S., Aguilera, A. R., Tamada, K. & Croft, M. J. The tumor necrosis factor superfamily molecule LIGHT promotes keratinocyte activity and skin fibrosis. J. Invest. Dermatol. 135, 2109–2118 (2015). a b "Entrez Gene: KRT10 keratin 10 (epidermolytic hyperkeratosis; keratosis palmaris et plantaris)". The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3-prime end of KRT10: from disease to a syndrome.

What are the clinical features of epidermolytic ichthyosis?

Epidermolytic ichthyosis is caused by missense mutations (where a single nucleotide is changed) in the keratin genes keratin 1 ( KRT1) [4,5] and keratin 10 ( KRT10) [5–7]. Nazzaro V, Ermacora E, Santucci B, Caputo R (1990). "Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form". Br. J. Dermatol. 122 (3): 417–22. doi: 10.1111/j.1365-2133.1990.tb08292.x. PMID 2182100. S2CID 9344745. Keratin tonofilaments consist of keratin 1 (K1) and 10 (K10) and are a robust structural component of the flattened squamous keratinocytes in the superficial epidermis [10–12]. Rosato, B. et al. Role of FGFR2b expression and signaling in keratinocyte differentiation: Sequential involvement of PKCδ and PKCα. Cell Death Dis. 9, 1–16 (2018). Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA, Wright MW (Jul 2006). "New consensus nomenclature for mammalian keratins". J Cell Biol. 174 (2): 169–74. doi: 10.1083/jcb.200603161. PMC 2064177. PMID 16831889.

Terrinoni, A., Didona, B., Caporali, S., Chillemi, G., Lo Surdo, A., Paradisi, M., Annichiarico-Petruzzelli, M., Candi, E., Bernardini, S., Melino, G. Hsu, M.-J. et al. Enhanced adhesion of monocytes via reverse signaling triggered by decoy receptor 3. Exp. Cell Res. 292, 241–251 (2004). Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi: 10.1016/S0163-4453(05)80037-4. PMID 1602151. Pastore, S., Lulli, D. & Girolomoni, G. J. Epidermal growth factor receptor signalling in keratinocyte biology: implications for skin toxicity of tyrosine kinase inhibitors. Arch. Toxicol. 88, 1189–1203 (2014). Wolf, C., Qian, Y., Brooke, M. A., Kelsell, D. P. & Franzke, C.-W. ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways. Sci. Rep. 6, 1–14 (2016).

MEDICAL ENCYCLOPEDIA

Given the similarities between various ichthyoses, a diagnosis of epidermolytic ichthyosis can be made using clinical, histopathological, and laboratory findings. The diagnosis can be confirmed with genetic testing [1–3]. In a young adult man (patient 2) with ichthyosis with confetti (IWC; 609165), Spoerri et al. (2015) identified heterozygosity for a de novo splicing mutation (c.1374-1G-C) in intron 6 of the KRT10 gene, predicted to cause a frameshift resulting in a premature termination codon (Ser458ArgfsTer120). The patient was born with a collodion membrane and exhibited other ectodermal anomalies including small malformed ears, hypoplastic nipples, and dorsal acral hypertrichosis, as well as eyelid ectropion, scant eyebrows and eyelashes, and large lunulae with long nail plates. Hyperpigmentation was noted within areas of healthy (revertant) skin. Truong, A. B. & Khavari, P. A. Control of keratinocyte proliferation and differentiation by p63. Cell Cycle 6, 295–299 (2007).

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. Siakavellas, S. I., Sfikakis, P. P. & Bamias, G. The TL1A/DR3/DcR3 pathway in autoimmune rheumatic diseases. Semin. Arthritis Rheum. 45, 1–8 (2015). Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. Renz, P., Imahorn, E., Spoerri, I., Aushev, M., March, O. P., Wariwoda, H., Von Arb, S., Volz, A., Itin, P. H., Reichelt, J., Burger, B.

What are the complications of epidermolytic ichthyosis?

Syder AJ, Yu QC, Paller AS, Giudice G, et al. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest 1994; 93: 1533–42. DOI: 10.1172/jci117132. PubMed Central