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Autosomal recessive congenital ichthyosis 5(ARCI5)

MedGen UID:
347628
Concept ID:
C1858133
Disease or Syndrome
Synonyms: ARCI5; Ichthyosis congenita III; Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive; Lamellar ichthyosis, type 3
 
Gene (location): CYP4F22 (19p13.12)
 
Monarch Initiative: MONDO:0011485
OMIM®: 604777

Definition

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). [from OMIM]

Additional descriptions

From MedlinePlus Genetics
Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).  https://medlineplus.gov/genetics/condition/lamellar-ichthyosis
From MedlinePlus Genetics
In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.

Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows.

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The collodion membrane is usually shed during the first few weeks of life. Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.  https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma

Clinical features

From HPO
Palmar hyperlinearity
MedGen UID:
400466
Concept ID:
C1864168
Finding
Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Acanthocytosis
MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Erythroderma
MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Epidermal acanthosis
MedGen UID:
65136
Concept ID:
C0221270
Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an anuclear keratin layer
White scaling skin
MedGen UID:
892516
Concept ID:
C4073146
Finding

Professional guidelines

PubMed

Chiramel MJ, Mathew L, Athirayath R, Chapla A, Sathishkumar D, Mani T, Danda S, George R
Pediatr Dermatol 2022 May;39(3):420-424. Epub 2022 Apr 12 doi: 10.1111/pde.14944. PMID: 35412663
Ahmed H, O'Toole EA
Pediatr Dermatol 2014 Sep-Oct;31(5):539-46. Epub 2014 Jun 12 doi: 10.1111/pde.12383. PMID: 24920541
Shwayder T
Am J Clin Dermatol 2004;5(1):17-29. doi: 10.2165/00128071-200405010-00004. PMID: 14979740

Recent clinical studies

Etiology

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
Pediatr Dermatol 2023 Jan;40(1):107-112. Epub 2022 Oct 19 doi: 10.1111/pde.15156. PMID: 36262015
Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J
BMC Med Genomics 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. PMID: 34983512Free PMC Article
Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O
Exp Dermatol 2021 Sep;30(9):1290-1297. Epub 2021 Apr 15 doi: 10.1111/exd.14345. PMID: 33786896
Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E
Clin Exp Dermatol 2013 Dec;38(8):911-6. Epub 2013 Apr 26 doi: 10.1111/ced.12148. PMID: 23621129
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Diagnosis

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
Pediatr Dermatol 2023 Jan;40(1):107-112. Epub 2022 Oct 19 doi: 10.1111/pde.15156. PMID: 36262015
Chiramel MJ, Mathew L, Athirayath R, Chapla A, Sathishkumar D, Mani T, Danda S, George R
Pediatr Dermatol 2022 May;39(3):420-424. Epub 2022 Apr 12 doi: 10.1111/pde.14944. PMID: 35412663
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M
Acta Derm Venereol 2021 Jun 22;101(6):adv00477. doi: 10.2340/00015555-3822. PMID: 33954798Free PMC Article
Cakmak E, Bagci G
Liver Int 2021 May;41(5):905-914. Epub 2021 Mar 18 doi: 10.1111/liv.14794. PMID: 33455044
Akiyama M
Hum Mutat 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. PMID: 20672373

Therapy

Chen MKY, Flanagan AL, Sebaratnam DF, Gu Y
Australas J Dermatol 2024 Mar;65(2):185-214. Epub 2023 Dec 21 doi: 10.1111/ajd.14197. PMID: 38126177
Karim N, Durbin-Johnson B, Rocke DM, Salemi M, Phinney BS, Naeem M, Rice RH
J Proteomics 2019 Jun 15;201:104-109. Epub 2019 Apr 10 doi: 10.1016/j.jprot.2019.04.007. PMID: 30978464
Sethuraman G, Marwaha RK, Challa A, Yenamandra VK, Ramakrishnan L, Thulkar S, Sharma VK
Pediatrics 2016 Jan;137(1) Epub 2015 Dec 31 doi: 10.1542/peds.2015-1313. PMID: 26721572
Ahmed H, O'Toole EA
Pediatr Dermatol 2014 Sep-Oct;31(5):539-46. Epub 2014 Jun 12 doi: 10.1111/pde.12383. PMID: 24920541
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Prognosis

Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
Ahmed H, O'Toole EA
Pediatr Dermatol 2014 Sep-Oct;31(5):539-46. Epub 2014 Jun 12 doi: 10.1111/pde.12383. PMID: 24920541
Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202
D'Alessio M, Fortugno P, Zambruno G, Hovnanian A
G Ital Dermatol Venereol 2013 Feb;148(1):37-51. PMID: 23407075
Happle R, van de Kerkhof PC, Traupe H
Dermatologica 1987;175 Suppl 1:107-24. doi: 10.1159/000248867. PMID: 2961628

Clinical prediction guides

Chen MKY, Flanagan AL, Sebaratnam DF, Gu Y
Australas J Dermatol 2024 Mar;65(2):185-214. Epub 2023 Dec 21 doi: 10.1111/ajd.14197. PMID: 38126177
Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross CJD, Brambilla D, Witzigmann D, Kulkarni J, Cullis PR, Hedtrich S
ACS Nano 2023 Nov 14;17(21):22046-22059. Epub 2023 Nov 2 doi: 10.1021/acsnano.3c08644. PMID: 37918441Free PMC Article
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L
Eur J Med Genet 2022 May;65(5):104501. Epub 2022 Apr 1 doi: 10.1016/j.ejmg.2022.104501. PMID: 35378319
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M
Acta Derm Venereol 2021 Jun 22;101(6):adv00477. doi: 10.2340/00015555-3822. PMID: 33954798Free PMC Article
Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA
Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818

Recent systematic reviews

Chen MKY, Flanagan AL, Sebaratnam DF, Gu Y
Australas J Dermatol 2024 Mar;65(2):185-214. Epub 2023 Dec 21 doi: 10.1111/ajd.14197. PMID: 38126177
Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I
J Am Acad Dermatol 2013 Oct;69(4):544-549.e8. Epub 2013 Jul 16 doi: 10.1016/j.jaad.2013.05.017. PMID: 23870202

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