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Atrophoderma vermiculatum(AVA)

MedGen UID:
82666
Concept ID:
C0263429
Disease or Syndrome
Synonyms: Atrophoderma vermiculata; ATROPHODERMIA RETICULATA SYMMETRICA FACIEI; Atrophodermia vermiculata; AVA; FOLLICULITIS ULERYTHEMATOSA RETICULATA; HONEYCOMB ATROPHY; Keratosis pilaris affecting the follicles of the eyebrow hairs; Type of genodermatosis
SNOMED CT: Honeycomb atrophy of face (2736005); Folliculitis ulerythematosa reticulata (2736005); Atrophoderma vermiculatum (2736005); Acne vermoulante (2736005)
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).
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0008849
OMIM®: 209700
Orphanet: ORPHA79100

Definition

Atrophoderma vermiculata, a form of keratosis pilaris atrophicans, typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. More rarely, the atrophy may extend to the upper lip, helices, ear lobes, and, in some cases, the limbs. The degree of inflammation, the presence of milia, and the extent of follicular plugs are variable (summary by Luria and Conologue, 2009). [from OMIM]

Clinical features

From HPO
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Keratosis pilaris atrophicans
MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).
Abnormality of the face
MedGen UID:
871375
Concept ID:
C4025871
Anatomical Abnormality
An abnormality of the face.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Leukonychia
MedGen UID:
68698
Concept ID:
C0240182
Finding
White discoloration of the nails.
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtrophoderma vermiculatum
Follow this link to review classifications for Atrophoderma vermiculatum in Orphanet.

Recent clinical studies

Etiology

Ramos-e-Silva M, Pirmez R
Clin Dermatol 2014 Nov-Dec;32(6):784-99. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.018. PMID: 25441472
Olaiwan A, Chandesris MO, Fraitag S, Lortholary O, Hermine O, Fischer A, de Prost Y, Picard C, Bodemer C
J Am Acad Dermatol 2011 Dec;65(6):1167-72. Epub 2011 Jun 24 doi: 10.1016/j.jaad.2010.09.714. PMID: 21703716

Diagnosis

Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
Llamas-Velasco M, Fraga J, Schaller J, Requena L, Daudén E, Rütten A
Am J Dermatopathol 2019 Oct;41(10):767-770. doi: 10.1097/DAD.0000000000001433. PMID: 31045870
Petersen MP, Bygum A
Skinmed 2018;16(6):421-422. Epub 2018 Dec 21 PMID: 30575514
Ramos-e-Silva M, Pirmez R
Clin Dermatol 2014 Nov-Dec;32(6):784-99. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.018. PMID: 25441472
Luria RB, Conologue T
Cutis 2009 Feb;83(2):83-6. PMID: 19326693

Therapy

Weightman W
Clin Exp Dermatol 1998 Mar;23(2):89-91. doi: 10.1046/j.1365-2230.1998.00326.x. PMID: 9692315

Prognosis

Bhoyrul B, Jones H, Blackford S
Clin Exp Dermatol 2016 Mar;41(2):159-61. Epub 2015 Jul 14 doi: 10.1111/ced.12700. PMID: 26179135
Ramos-e-Silva M, Pirmez R
Clin Dermatol 2014 Nov-Dec;32(6):784-99. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.018. PMID: 25441472
Weightman W
Clin Exp Dermatol 1998 Mar;23(2):89-91. doi: 10.1046/j.1365-2230.1998.00326.x. PMID: 9692315
Frosch PJ, Brumage MR, Schuster-Pavlovic C, Bersch A
J Am Acad Dermatol 1988 Mar;18(3):538-42. doi: 10.1016/s0190-9622(88)70077-8. PMID: 3280621

Clinical prediction guides

Llamas-Velasco M, Fraga J, Schaller J, Requena L, Daudén E, Rütten A
Am J Dermatopathol 2019 Oct;41(10):767-770. doi: 10.1097/DAD.0000000000001433. PMID: 31045870
Olaiwan A, Chandesris MO, Fraitag S, Lortholary O, Hermine O, Fischer A, de Prost Y, Picard C, Bodemer C
J Am Acad Dermatol 2011 Dec;65(6):1167-72. Epub 2011 Jun 24 doi: 10.1016/j.jaad.2010.09.714. PMID: 21703716

Recent systematic reviews

Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271

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