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Malformation syndrome with skin/mucosae involvement

MedGen UID:
1843028
•Concept ID:
C5680621
•
Disease or Syndrome
Synonym: Rare developmental defect with skin/mucosae involvement
 
Orphanet: ORPHA139027

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMalformation syndrome with skin/mucosae involvement

Professional guidelines

PubMed

Therapeutic approaches and targets for treatment of autoimmune bullous diseases.
Bardazzi F, Loi C, Chessa Marco A, Di Altobrando A, Filippi F, Lacava R, Viviani F, Balestri R, Leuzzi M, Sacchelli L
Dermatol Ther 2021 Sep;34(5):e15032. Epub 2021 Jul 14 doi: 10.1111/dth.15032. PMID: 34145701
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Autoimmune Blistering Diseases in the Elderly: Clinical Presentations and Management.
Kim M, Borradori L, Murrell DF
Drugs Aging 2016 Oct;33(10):711-723. doi: 10.1007/s40266-016-0402-1. PMID: 27738963

Recent clinical studies

Etiology

Therapeutic approaches and targets for treatment of autoimmune bullous diseases.
Bardazzi F, Loi C, Chessa Marco A, Di Altobrando A, Filippi F, Lacava R, Viviani F, Balestri R, Leuzzi M, Sacchelli L
Dermatol Ther 2021 Sep;34(5):e15032. Epub 2021 Jul 14 doi: 10.1111/dth.15032. PMID: 34145701
The color of skin: gray diseases of the skin, nails, and mucosa.
Abdel-Naser MB
Clin Dermatol 2019 Sep-Oct;37(5):507-515. Epub 2019 Jul 31 doi: 10.1016/j.clindermatol.2019.07.011. PMID: 31896405
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho OF, Lopez-Moreno D, Morales-Sanchez MA, Hofmann E, Pacheco-Quito M, Wieland I, Cortes-Gonzalez V, Villanueva-Mendoza C, Zenker M, Zenteno JC
Mol Genet Genomic Med 2019 May;7(5):e625. Epub 2019 Mar 19 doi: 10.1002/mgg3.625. PMID: 30891959Free PMC Article
Autoimmune blistering dermatoses as systemic diseases.
Vassileva S, Drenovska K, Manuelyan K
Clin Dermatol 2014 May-Jun;32(3):364-75. Epub 2013 Nov 22 doi: 10.1016/j.clindermatol.2013.11.003. PMID: 24767184

Diagnosis

Therapeutic approaches and targets for treatment of autoimmune bullous diseases.
Bardazzi F, Loi C, Chessa Marco A, Di Altobrando A, Filippi F, Lacava R, Viviani F, Balestri R, Leuzzi M, Sacchelli L
Dermatol Ther 2021 Sep;34(5):e15032. Epub 2021 Jul 14 doi: 10.1111/dth.15032. PMID: 34145701
Stevens-Johnson syndrome: The role of an ophthalmologist.
Jain R, Sharma N, Basu S, Iyer G, Ueta M, Sotozono C, Kannabiran C, Rathi VM, Gupta N, Kinoshita S, Gomes JA, Chodosh J, Sangwan VS
Surv Ophthalmol 2016 Jul-Aug;61(4):369-99. Epub 2016 Jan 30 doi: 10.1016/j.survophthal.2016.01.004. PMID: 26829569
Autoimmune blistering dermatoses as systemic diseases.
Vassileva S, Drenovska K, Manuelyan K
Clin Dermatol 2014 May-Jun;32(3):364-75. Epub 2013 Nov 22 doi: 10.1016/j.clindermatol.2013.11.003. PMID: 24767184
Kindler syndrome.
Kaviarasan PK, Prasad PV, Shradda, Viswanathan P
Indian J Dermatol Venereol Leprol 2005 Sep-Oct;71(5):348-50. doi: 10.4103/0378-6323.16788. PMID: 16394462
Unilateral nevoid telangiectasia with gastric involvement.
Anderton RL, Smith JG Jr
Arch Dermatol 1975 May;111(5):617-21. PMID: 1093482

Therapy

Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O
Rheumatol Int 2020 Nov;40(11):1903-1910. Epub 2020 Jul 20 doi: 10.1007/s00296-020-04653-x. PMID: 32691099Free PMC Article
The color of skin: gray diseases of the skin, nails, and mucosa.
Abdel-Naser MB
Clin Dermatol 2019 Sep-Oct;37(5):507-515. Epub 2019 Jul 31 doi: 10.1016/j.clindermatol.2019.07.011. PMID: 31896405
Autoimmune Blistering Diseases in the Elderly: Clinical Presentations and Management.
Kim M, Borradori L, Murrell DF
Drugs Aging 2016 Oct;33(10):711-723. doi: 10.1007/s40266-016-0402-1. PMID: 27738963
Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): otorhinolaryngological manifestations.
Pau H, Carney AS, Murty GE
Clin Otolaryngol Allied Sci 2001 Apr;26(2):93-8. doi: 10.1046/j.1365-2273.2001.00442.x. PMID: 11309047
The eighth Frederick H. Verhoeff Lecture. presented by saiichi mishima, MD Behçet's disease in Japan: ophthalmologic aspects.
Mishima S, Masuda K, Izawa Y, Mochizuki M, Namba K
Trans Am Ophthalmol Soc 1979;77:225-79. PMID: 397657Free PMC Article

Prognosis

Vascular anomalies associated with hepatic shunting.
Schmalz MJ, Radhakrishnan K
World J Gastroenterol 2020 Nov 14;26(42):6582-6598. doi: 10.3748/wjg.v26.i42.6582. PMID: 33268948Free PMC Article
Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree.
El Hachem M, Diociaiuti A, Proto V, Fortugno P, Zambruno G, Castiglia D, Naim M
Eur J Dermatol 2015 Jan-Feb;25(1):14-9. doi: 10.1684/ejd.2014.2457. PMID: 25515598
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, Lanschuetzer C, Bauer JW, Hintner H
Arch Dermatol 2006 Dec;142(12):1619-24. doi: 10.1001/archderm.142.12.1619. PMID: 17178989
The eighth Frederick H. Verhoeff Lecture. presented by saiichi mishima, MD Behçet's disease in Japan: ophthalmologic aspects.
Mishima S, Masuda K, Izawa Y, Mochizuki M, Namba K
Trans Am Ophthalmol Soc 1979;77:225-79. PMID: 397657Free PMC Article
CURRENT CONCEPTS IN DERMATOLOGY. II. THE SKIN AND SYSTEMIC DISEASE.
JACKSON R
Can Med Assoc J 1963 Sep 21;89(12):607-12. PMID: 14063940Free PMC Article

Clinical prediction guides

Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree.
El Hachem M, Diociaiuti A, Proto V, Fortugno P, Zambruno G, Castiglia D, Naim M
Eur J Dermatol 2015 Jan-Feb;25(1):14-9. doi: 10.1684/ejd.2014.2457. PMID: 25515598
Arteriovenous malformations and other vascular malformation syndromes.
Whitehead KJ, Smith MC, Li DY
Cold Spring Harb Perspect Med 2013 Feb 1;3(2):a006635. doi: 10.1101/cshperspect.a006635. PMID: 23125071Free PMC Article
Absence of inferior labial and lingual frenula in Ehlers-Danlos syndrome: a minor diagnostic criterion in French patients.
Machet L, Hüttenberger B, Georgesco G, Doré C, Jamet F, Bonnin-Goga B, Giraudeau B, Maruani A, Laure B, Vaillant L
Am J Clin Dermatol 2010;11(4):269-73. doi: 10.2165/11530090-000000000-00000. PMID: 20143893
Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement.
Ch'ng S, Tan ST
J Plast Reconstr Aesthet Surg 2008 Aug;61(8):889-93. Epub 2007 Jul 2 doi: 10.1016/j.bjps.2007.05.011. PMID: 17604243
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, Lanschuetzer C, Bauer JW, Hintner H
Arch Dermatol 2006 Dec;142(12):1619-24. doi: 10.1001/archderm.142.12.1619. PMID: 17178989

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