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Generalized basaloid follicular hamartoma syndrome(GBFHS)

MedGen UID:
343009
Concept ID:
C1853919
Disease or Syndrome
Synonym: Basaloid follicular hamartoma syndrome, generalized, autosomal dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0011605
OMIM®: 605827
Orphanet: ORPHA168632

Definition

Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. [from ORDO]

Clinical features

From HPO
Hamartoma
MedGen UID:
6713
Concept ID:
C0018552
Neoplastic Process
A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Comedo
MedGen UID:
67447
Concept ID:
C0221228
Disease or Syndrome
A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
Papule
MedGen UID:
507324
Concept ID:
C0332563
Finding
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
Palmar pits
MedGen UID:
96101
Concept ID:
C0423776
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized basaloid follicular hamartoma syndrome
Follow this link to review classifications for Generalized basaloid follicular hamartoma syndrome in Orphanet.

Recent clinical studies

Diagnosis

Shevchenko A, Durkin JR, Moon AT
Pediatr Dermatol 2018 Nov;35(6):e396-e397. Epub 2018 Aug 28 doi: 10.1111/pde.13614. PMID: 30152544
Gumaste P, Ortiz AE, Patel A, Baron J, Harris R, Barr R
Am J Dermatopathol 2015 Mar;37(3):e37-40. doi: 10.1097/DAD.0000000000000085. PMID: 24698936

Clinical prediction guides

Ramos-Ceballos FI, Pashaei S, Kincannon JM, Morgan MB, Smoller BR
J Cutan Pathol 2008 May;35(5):477-83. doi: 10.1111/j.1600-0560.2007.00832.x. PMID: 18399809

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