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Acrodermatitis continua suppurativa of Hallopeau(PSORS14)

MedGen UID:
581114
Concept ID:
C0392439
Disease or Syndrome
Synonyms: ACRODERMATITIS CONTINUA OF HALLOPEAU; INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY; Psoriasis 14, pustular; PSORS14
SNOMED CT: Acrodermatitis continua of Hallopeau (83839005); Dermatitis repens (83839005); Acrodermatitis perstans (83839005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IL36RN (2q14.1)
 
Monarch Initiative: MONDO:0013626
OMIM®: 614204
Orphanet: ORPHA163931

Definition

A rare, genetic, chronic, recurrent, slowly progressive, epidermal disease characterized by small, sterile, pustular eruptions, involving the nails and surrounding skin of the fingers and/or toes, which coalesce and burst, leaving erythematous, atrophic skin where new pustules develop. Onychodystrophy is frequently associated and anonychia and osteolysis are reported in severe cases. Local expansion (to involve the hands, forearms and/or feet) and involvement of mucosal surfaces (e.g. conjunctiva, tongue, urethra) may be observed. [from ORDO]

Clinical features

From HPO
Polyarticular arthritis
MedGen UID:
56408
Concept ID:
C0162323
Disease or Syndrome
Pain and inflammation in more than five joints.
Oligoarthritis
MedGen UID:
856143
Concept ID:
C3892044
Disease or Syndrome
A type of arthritis that affects up to four joints in the first six months of disease.
Cholangitis
MedGen UID:
40258
Concept ID:
C0008311
Disease or Syndrome
Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Neutrophilia
MedGen UID:
57729
Concept ID:
C0151683
Finding
Increased number of neutrophils circulating in blood.
Pustule
MedGen UID:
488804
Concept ID:
C0241157
Finding
A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
Psoriasiform dermatitis
MedGen UID:
75508
Concept ID:
C0262985
Disease or Syndrome
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Elevated circulating C-reactive protein concentration
MedGen UID:
892906
Concept ID:
C4023452
Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Geographic tongue
MedGen UID:
6619
Concept ID:
C0017677
Disease or Syndrome
An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.
Furrowed tongue
MedGen UID:
21583
Concept ID:
C0040412
Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
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.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrodermatitis continua suppurativa of Hallopeau

Recent clinical studies

Etiology

Mori M, Tobita R, Egusa C, Maeda T, Abe N, Kawakami H, Mae K, Matsumoto Y, Kawachi Y, Okubo Y
J Dermatol 2021 Nov;48(11):1745-1753. Epub 2021 Aug 19 doi: 10.1111/1346-8138.16103. PMID: 34409641

Diagnosis

Müller S, Wilsmann-Theis D, Karakostas P, Poortinga S, Balakirski G, Schäfer VS
Rheumatology (Oxford) 2021 Nov 3;60(11):e397-e399. doi: 10.1093/rheumatology/keab490. PMID: 34128982
Weisshaar E, Diepgen TL
J Dtsch Dermatol Ges 2007 Jun;5(6):489-92. doi: 10.1111/j.1610-0387.2007.06332.x. PMID: 17537042
Török L, Husz S, Ocsai H, Krischner A, Kiss M
Eur J Dermatol 2003 Nov-Dec;13(6):579-81. PMID: 14721779

Therapy

Müller S, Wilsmann-Theis D, Karakostas P, Poortinga S, Balakirski G, Schäfer VS
Rheumatology (Oxford) 2021 Nov 3;60(11):e397-e399. doi: 10.1093/rheumatology/keab490. PMID: 34128982
Weisshaar E, Diepgen TL
J Dtsch Dermatol Ges 2007 Jun;5(6):489-92. doi: 10.1111/j.1610-0387.2007.06332.x. PMID: 17537042
Wilsmann-Theis D, Hagemann T, Dederer H, Wenzel J, Bieber T, Novak N
Br J Dermatol 2004 Jun;150(6):1194-7. doi: 10.1111/j.1365-2133.2004.05992.x. PMID: 15214910
Gupta AK, Ellis CN, Nickoloff BJ, Goldfarb MT, Ho VC, Rocher LL, Griffiths CE, Cooper KD, Voorhees JJ
Arch Dermatol 1990 Mar;126(3):339-50. PMID: 2178558

Prognosis

Mori M, Tobita R, Egusa C, Maeda T, Abe N, Kawakami H, Mae K, Matsumoto Y, Kawachi Y, Okubo Y
J Dermatol 2021 Nov;48(11):1745-1753. Epub 2021 Aug 19 doi: 10.1111/1346-8138.16103. PMID: 34409641

Clinical prediction guides

Wilsmann-Theis D, Hagemann T, Dederer H, Wenzel J, Bieber T, Novak N
Br J Dermatol 2004 Jun;150(6):1194-7. doi: 10.1111/j.1365-2133.2004.05992.x. PMID: 15214910

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