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Rombo syndrome

MedGen UID:
356704
•Concept ID:
C1867147
•
Disease or Syndrome
Synonym: Vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis
SNOMED CT: Rombo syndrome (721904001)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008390
OMIM®: 180730
Orphanet: ORPHA3110

Definition

Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age. [from SNOMEDCT_US]

Clinical features

From HPO
Skin basal cell carcinoma
MedGen UID:
1648304
•Concept ID:
C4721806
•
Neoplastic Process
The presence of a basal cell carcinoma of the skin.
See: Feature record | Search on this feature
Abnormal eyebrow morphology
MedGen UID:
859993
•Concept ID:
C4011556
•
Anatomical Abnormality
An abnormality of the eyebrow.
See: Feature record | Search on this feature
Facial telangiectasia
MedGen UID:
488948
•Concept ID:
C0858684
•
Finding
Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.
See: Feature record | Search on this feature
Abnormal eyelash morphology
MedGen UID:
382526
•Concept ID:
C2675111
•
Finding
An abnormality of the eyelashes.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRombo syndrome
Follow this link to review classifications for Rombo syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and Management of Hereditary Basal Cell Skin Cancer.
Shanley S, McCormack C
Recent Results Cancer Res 2016;205:191-212. doi: 10.1007/978-3-319-29998-3_11. PMID: 27075355

Suggested Reading

PubMed

Genetics of Skin Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389333
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.
Krakowski AC, Hafeez F, Westheim A, Pan EY, Wilson M
J Am Acad Dermatol 2022 Jun;86(6S):S1-S13. doi: 10.1016/j.jaad.2022.03.023. PMID: 35577405
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Diagnosis and Management of Hereditary Basal Cell Skin Cancer.
Shanley S, McCormack C
Recent Results Cancer Res 2016;205:191-212. doi: 10.1007/978-3-319-29998-3_11. PMID: 27075355

Diagnosis

Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.
Krakowski AC, Hafeez F, Westheim A, Pan EY, Wilson M
J Am Acad Dermatol 2022 Jun;86(6S):S1-S13. doi: 10.1016/j.jaad.2022.03.023. PMID: 35577405
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Diagnosis and Management of Hereditary Basal Cell Skin Cancer.
Shanley S, McCormack C
Recent Results Cancer Res 2016;205:191-212. doi: 10.1007/978-3-319-29998-3_11. PMID: 27075355
A case of Rombo syndrome.
van Steensel MA, Jaspers NG, Steijlen PM
Br J Dermatol 2001 Jun;144(6):1215-8. doi: 10.1046/j.1365-2133.2001.04235.x. PMID: 11422044
Familial syndromes with skin tumor markers.
Hauck RM, Manders EK
Ann Plast Surg 1994 Jul;33(1):102-11. doi: 10.1097/00000637-199407000-00022. PMID: 7944188

Clinical prediction guides

The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis.
Michaëlsson G, Olsson E, Westermark P
Acta Derm Venereol 1981;61(6):497-503. PMID: 6177160

Supplemental Content

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    Clinical resources

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    Reviews

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