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White scaling skin

MedGen UID:
892516
Concept ID:
C4073146
Finding
Synonym: White scaly skin
 
HPO: HP:0040190

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWhite scaling skin

Conditions with this feature

Autosomal recessive congenital ichthyosis 5
MedGen UID:
347628
Concept ID:
C1858133
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Peeling skin syndrome type A
MedGen UID:
864166
Concept ID:
C4015729
Disease or Syndrome
Peeling skin syndrome-3 (PSS3) is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).
Ichthyosis, congenital, autosomal recessive 12
MedGen UID:
934588
Concept ID:
C4310621
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.

Professional guidelines

PubMed

Naik PP
An Bras Dermatol 2022 Jul-Aug;97(4):471-477. Epub 2022 May 27 doi: 10.1016/j.abd.2021.10.002. PMID: 35637050Free PMC Article
Goodman GJ
Int J Dermatol 2011 Oct;50(10):1179-94. doi: 10.1111/j.1365-4632.2011.05029.x. PMID: 21950285
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

Zhou G, Ren X, Tang Z, Li W, Chen W, He Y, Wei B, Zhang H, Ma F, Chen X, Zhang G, Shen M, Liu H
Front Immunol 2023;14:1043380. Epub 2023 Feb 14 doi: 10.3389/fimmu.2023.1043380. PMID: 36865550Free PMC Article
GBD US Health Disparities Collaborators
Lancet 2022 Jul 2;400(10345):25-38. Epub 2022 Jun 16 doi: 10.1016/S0140-6736(22)00876-5. PMID: 35717994Free PMC Article
Eichenfield LF, Flohr C, Sidbury R, Siegfried E, Szalai Z, Galus R, Yao Z, Takahashi H, Barbarot S, Feeney C, Zhang F, DiBonaventura M, Rojo R, Valdez H, Chan G
JAMA Dermatol 2021 Oct 1;157(10):1165-1173. doi: 10.1001/jamadermatol.2021.2830. PMID: 34406366Free PMC Article
Gordon KB, Foley P, Krueger JG, Pinter A, Reich K, Vender R, Vanvoorden V, Madden C, White K, Cioffi C, Blauvelt A
Lancet 2021 Feb 6;397(10273):475-486. doi: 10.1016/S0140-6736(21)00126-4. PMID: 33549192
Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, Barker JN, Chandran V, Dand N, Duffin KC, Enerbäck C, Esko T, Franke A, Gladman DD, Hoffmann P, Kingo K, Kõks S, Krueger GG, Lim HW, Metspalu A, Mrowietz U, Mucha S, Rahman P, Reis A, Tejasvi T, Trembath R, Voorhees JJ, Weidinger S, Weichenthal M, Wen X, Eriksson N, Kang HM, Hinds DA, Nair RP, Abecasis GR, Elder JT
Nat Commun 2017 May 24;8:15382. doi: 10.1038/ncomms15382. PMID: 28537254Free PMC Article

Diagnosis

Heath CR, Usatine RP
J Fam Pract 2021 Jul;70(6):303. doi: 10.12788/jfp.0241. PMID: 34431778
Simpson E, Bissonnette R, Eichenfield LF, Guttman-Yassky E, King B, Silverberg JI, Beck LA, Bieber T, Reich K, Kabashima K, Seyger M, Siegfried E, Stingl G, Feldman SR, Menter A, van de Kerkhof P, Yosipovitch G, Paul C, Martel P, Dubost-Brama A, Armstrong J, Chavda R, Frey S, Joubert Y, Milutinovic M, Parneix A, Teixeira HD, Lin CY, Sun L, Klekotka P, Nickoloff B, Dutronc Y, Mallbris L, Janes JM, DeLozier AM, Nunes FP, Paller AS
J Am Acad Dermatol 2020 Sep;83(3):839-846. Epub 2020 Apr 25 doi: 10.1016/j.jaad.2020.04.104. PMID: 32344071
Leung AKC, Hon KL, Leong KF, Barankin B, Lam JM
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):58-68. doi: 10.2174/1872213X14666200106145624. PMID: 31906842
Egeberg A
Dan Med J 2016 Feb;63(2) PMID: 26836804
McConnell DC, Harris TJ, Tucker SB
Dermatitis 2012 Jan-Feb;23(1):27-31. doi: 10.1097/DER.0b013e31823d18ef. PMID: 22653066

Therapy

Zhou G, Ren X, Tang Z, Li W, Chen W, He Y, Wei B, Zhang H, Ma F, Chen X, Zhang G, Shen M, Liu H
Front Immunol 2023;14:1043380. Epub 2023 Feb 14 doi: 10.3389/fimmu.2023.1043380. PMID: 36865550Free PMC Article
Eichenfield LF, Flohr C, Sidbury R, Siegfried E, Szalai Z, Galus R, Yao Z, Takahashi H, Barbarot S, Feeney C, Zhang F, DiBonaventura M, Rojo R, Valdez H, Chan G
JAMA Dermatol 2021 Oct 1;157(10):1165-1173. doi: 10.1001/jamadermatol.2021.2830. PMID: 34406366Free PMC Article
Gordon KB, Foley P, Krueger JG, Pinter A, Reich K, Vender R, Vanvoorden V, Madden C, White K, Cioffi C, Blauvelt A
Lancet 2021 Feb 6;397(10273):475-486. doi: 10.1016/S0140-6736(21)00126-4. PMID: 33549192
Leung AKC, Hon KL, Leong KF, Barankin B, Lam JM
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):58-68. doi: 10.2174/1872213X14666200106145624. PMID: 31906842
McConnell DC, Harris TJ, Tucker SB
Dermatitis 2012 Jan-Feb;23(1):27-31. doi: 10.1097/DER.0b013e31823d18ef. PMID: 22653066

Prognosis

Wang Q, Qiu Z, Cheng L, Xu S, Li H, Guo J, Zhang X
Arch Dermatol Res 2024 Jun 1;316(6):328. doi: 10.1007/s00403-024-03103-z. PMID: 38824251
Vance P, Wyles S, Alavi A
Adv Skin Wound Care 2022 Jun 1;35(6):1-4. doi: 10.1097/01.ASW.0000826828.53117.8c. PMID: 35703855
Rogalla S, Contag CH
Cancer J 2015 May-Jun;21(3):179-87. doi: 10.1097/PPO.0000000000000122. PMID: 26049697
Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297
Vos T, Flaxman AD, Naghavi M, Lozano R, Michaud C, Ezzati M, Shibuya K, Salomon JA, Abdalla S, Aboyans V, Abraham J, Ackerman I, Aggarwal R, Ahn SY, Ali MK, Alvarado M, Anderson HR, Anderson LM, Andrews KG, Atkinson C, Baddour LM, Bahalim AN, Barker-Collo S, Barrero LH, Bartels DH, Basáñez MG, Baxter A, Bell ML, Benjamin EJ, Bennett D, Bernabé E, Bhalla K, Bhandari B, Bikbov B, Bin Abdulhak A, Birbeck G, Black JA, Blencowe H, Blore JD, Blyth F, Bolliger I, Bonaventure A, Boufous S, Bourne R, Boussinesq M, Braithwaite T, Brayne C, Bridgett L, Brooker S, Brooks P, Brugha TS, Bryan-Hancock C, Bucello C, Buchbinder R, Buckle G, Budke CM, Burch M, Burney P, Burstein R, Calabria B, Campbell B, Canter CE, Carabin H, Carapetis J, Carmona L, Cella C, Charlson F, Chen H, Cheng AT, Chou D, Chugh SS, Coffeng LE, Colan SD, Colquhoun S, Colson KE, Condon J, Connor MD, Cooper LT, Corriere M, Cortinovis M, de Vaccaro KC, Couser W, Cowie BC, Criqui MH, Cross M, Dabhadkar KC, Dahiya M, Dahodwala N, Damsere-Derry J, Danaei G, Davis A, De Leo D, Degenhardt L, Dellavalle R, Delossantos A, Denenberg J, Derrett S, Des Jarlais DC, Dharmaratne SD, Dherani M, Diaz-Torne C, Dolk H, Dorsey ER, Driscoll T, Duber H, Ebel B, Edmond K, Elbaz A, Ali SE, Erskine H, Erwin PJ, Espindola P, Ewoigbokhan SE, Farzadfar F, Feigin V, Felson DT, Ferrari A, Ferri CP, Fèvre EM, Finucane MM, Flaxman S, Flood L, Foreman K, Forouzanfar MH, Fowkes FG, Franklin R, Fransen M, Freeman MK, Gabbe BJ, Gabriel SE, Gakidou E, Ganatra HA, Garcia B, Gaspari F, Gillum RF, Gmel G, Gosselin R, Grainger R, Groeger J, Guillemin F, Gunnell D, Gupta R, Haagsma J, Hagan H, Halasa YA, Hall W, Haring D, Haro JM, Harrison JE, Havmoeller R, Hay RJ, Higashi H, Hill C, Hoen B, Hoffman H, Hotez PJ, Hoy D, Huang JJ, Ibeanusi SE, Jacobsen KH, James SL, Jarvis D, Jasrasaria R, Jayaraman S, Johns N, Jonas JB, Karthikeyan G, Kassebaum N, Kawakami N, Keren A, Khoo JP, King CH, Knowlton LM, Kobusingye O, Koranteng A, Krishnamurthi R, Lalloo R, Laslett LL, Lathlean T, Leasher JL, Lee YY, Leigh J, Lim SS, Limb E, Lin JK, Lipnick M, Lipshultz SE, Liu W, Loane M, Ohno SL, Lyons R, Ma J, Mabweijano J, MacIntyre MF, Malekzadeh R, Mallinger L, Manivannan S, Marcenes W, March L, Margolis DJ, Marks GB, Marks R, Matsumori A, Matzopoulos R, Mayosi BM, McAnulty JH, McDermott MM, McGill N, McGrath J, Medina-Mora ME, Meltzer M, Mensah GA, Merriman TR, Meyer AC, Miglioli V, Miller M, Miller TR, Mitchell PB, Mocumbi AO, Moffitt TE, Mokdad AA, Monasta L, Montico M, Moradi-Lakeh M, Moran A, Morawska L, Mori R, Murdoch ME, Mwaniki MK, Naidoo K, Nair MN, Naldi L, Narayan KM, Nelson PK, Nelson RG, Nevitt MC, Newton CR, Nolte S, Norman P, Norman R, O'Donnell M, O'Hanlon S, Olives C, Omer SB, Ortblad K, Osborne R, Ozgediz D, Page A, Pahari B, Pandian JD, Rivero AP, Patten SB, Pearce N, Padilla RP, Perez-Ruiz F, Perico N, Pesudovs K, Phillips D, Phillips MR, Pierce K, Pion S, Polanczyk GV, Polinder S, Pope CA 3rd, Popova S, Porrini E, Pourmalek F, Prince M, Pullan RL, Ramaiah KD, Ranganathan D, Razavi H, Regan M, Rehm JT, Rein DB, Remuzzi G, Richardson K, Rivara FP, Roberts T, Robinson C, De Leòn FR, Ronfani L, Room R, Rosenfeld LC, Rushton L, Sacco RL, Saha S, Sampson U, Sanchez-Riera L, Sanman E, Schwebel DC, Scott JG, Segui-Gomez M, Shahraz S, Shepard DS, Shin H, Shivakoti R, Singh D, Singh GM, Singh JA, Singleton J, Sleet DA, Sliwa K, Smith E, Smith JL, Stapelberg NJ, Steer A, Steiner T, Stolk WA, Stovner LJ, Sudfeld C, Syed S, Tamburlini G, Tavakkoli M, Taylor HR, Taylor JA, Taylor WJ, Thomas B, Thomson WM, Thurston GD, Tleyjeh IM, Tonelli M, Towbin JA, Truelsen T, Tsilimbaris MK, Ubeda C, Undurraga EA, van der Werf MJ, van Os J, Vavilala MS, Venketasubramanian N, Wang M, Wang W, Watt K, Weatherall DJ, Weinstock MA, Weintraub R, Weisskopf MG, Weissman MM, White RA, Whiteford H, Wiersma ST, Wilkinson JD, Williams HC, Williams SR, Witt E, Wolfe F, Woolf AD, Wulf S, Yeh PH, Zaidi AK, Zheng ZJ, Zonies D, Lopez AD, Murray CJ, AlMazroa MA, Memish ZA
Lancet 2012 Dec 15;380(9859):2163-96. doi: 10.1016/S0140-6736(12)61729-2. PMID: 23245607Free PMC Article

Clinical prediction guides

Zhou G, Ren X, Tang Z, Li W, Chen W, He Y, Wei B, Zhang H, Ma F, Chen X, Zhang G, Shen M, Liu H
Front Immunol 2023;14:1043380. Epub 2023 Feb 14 doi: 10.3389/fimmu.2023.1043380. PMID: 36865550Free PMC Article
Gordon KB, Foley P, Krueger JG, Pinter A, Reich K, Vender R, Vanvoorden V, Madden C, White K, Cioffi C, Blauvelt A
Lancet 2021 Feb 6;397(10273):475-486. doi: 10.1016/S0140-6736(21)00126-4. PMID: 33549192
Manousaki D, Mitchell R, Dudding T, Haworth S, Harroud A, Forgetta V, Shah RL, Luan J, Langenberg C, Timpson NJ, Richards JB
Am J Hum Genet 2020 Mar 5;106(3):327-337. Epub 2020 Feb 13 doi: 10.1016/j.ajhg.2020.01.017. PMID: 32059762Free PMC Article
Leung AKC, Hon KL, Leong KF, Barankin B, Lam JM
Recent Pat Inflamm Allergy Drug Discov 2020;14(1):58-68. doi: 10.2174/1872213X14666200106145624. PMID: 31906842
Tsoi LC, Stuart PE, Tian C, Gudjonsson JE, Das S, Zawistowski M, Ellinghaus E, Barker JN, Chandran V, Dand N, Duffin KC, Enerbäck C, Esko T, Franke A, Gladman DD, Hoffmann P, Kingo K, Kõks S, Krueger GG, Lim HW, Metspalu A, Mrowietz U, Mucha S, Rahman P, Reis A, Tejasvi T, Trembath R, Voorhees JJ, Weidinger S, Weichenthal M, Wen X, Eriksson N, Kang HM, Hinds DA, Nair RP, Abecasis GR, Elder JT
Nat Commun 2017 May 24;8:15382. doi: 10.1038/ncomms15382. PMID: 28537254Free PMC Article

Recent systematic reviews

Garg SP, Williams T, Taritsa IC, Wan R, Goel C, Harris R, Huffman K, Galiano RD
Wound Repair Regen 2023 Nov-Dec;31(6):731-737. Epub 2023 Oct 15 doi: 10.1111/wrr.13120. PMID: 37768279
Purswani JM, Nwankwo C, Adotama P, Gutierrez D, Perez CA, Tattersall IW, Gerber NK
Clin Breast Cancer 2023 Jan;23(1):1-14. Epub 2022 Oct 8 doi: 10.1016/j.clbc.2022.10.002. PMID: 36335037
Golińska J, Sar-Pomian M, Rudnicka L
Dermatology 2022;238(3):412-421. Epub 2021 Jul 15 doi: 10.1159/000517516. PMID: 34265772
Żychowska M, Żychowska M
Int J Dermatol 2021 Jul;60(7):818-828. Epub 2020 Dec 15 doi: 10.1111/ijd.15365. PMID: 33319363
Oliveira KA, Araújo EM, Oliveira KA, Casotti CA, Silva CALD, Santos DBD
Rev Saude Publica 2018 Apr 9;52:26. doi: 10.11606/S1518-8787.2018052000406. PMID: 29641651Free PMC Article

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