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Hyaline fibromatosis syndrome(HFS)

MedGen UID:
411197
Concept ID:
C2745948
Disease or Syndrome
Synonyms: HFS; Hyalinosis, Inherited Systemic; HYALINOSIS, SYSTEMIC; Hyalinosis, systemic juvenile; Infantile systemic hyalinosis; Juvenile hyaline fibromatosis; Puretic syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Juvenile hyaline fibromatosis (238861002); Puretic syndrome (238861002); Systemic hyalinosis (238861002); Infantile systemic hyalinosis (238867003)
 
Gene (location): ANTXR2 (4q21.21)
OMIM®: 228600

Disease characteristics

Excerpted from the GeneReview: Hyalinosis, Inherited Systemic
Inherited systemic hyalinosis is characterized by hyaline deposits in the papillary dermis and other tissues. It typically presents at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood. [from GeneReviews]
Authors:
Joseph TC Shieh  |  H Eugene Hoyme  |  Laura T Arbour   view full author information

Additional descriptions

From OMIM
Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by Denadai et al., 2012).  http://www.omim.org/entry/228600
From GHR
Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and bones. Individuals with this condition typically begin to develop signs and symptoms within the first few years of life. Juvenile hyaline fibromatosis is characterized by skin bumps that frequently appear on the hands, neck, scalp, ears, and nose. These skin bumps can also develop in joint creases and the genital region. They vary in size and are sometimes painful. Affected individuals usually develop more skin bumps over time.Juvenile hyaline fibromatosis is also characterized by overgrowth of the gums (gingival hypertrophy) and joint deformities (contractures) that can impair movement. In addition, affected individuals may grow slowly and have bone abnormalities. People with juvenile hyaline fibromatosis typically have severe physical limitations, but most individuals have normal intelligence and live into adulthood.  https://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis

Clinical features

Gingival fibromatosis
MedGen UID:
42017
Concept ID:
C0016049
Finding
Generalized or localized diffuse fibrous overgrowth of the gingival tissue, usually transmitted as an autosomal dominant trait, but some cases are idiopathic and others produced by drugs. The enlarged gingiva is pink, firm, and has a leather-like consistency with a minutely pebbled surface and in severe cases the teeth are almost completely covered and the enlargement projects into the oral vestibule. (Dorland, 28th ed)
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Progressive flexion contractures
MedGen UID:
480952
Concept ID:
C3279322
Finding
Progressively worsening joint contractures.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).
Osteolysis
MedGen UID:
67445
Concept ID:
C0221204
Pathologic Function
Dissolution of bone that particularly involves the removal or loss of calcium.
Progressive flexion contractures
MedGen UID:
480952
Concept ID:
C3279322
Finding
Progressively worsening joint contractures.
Gingival fibromatosis
MedGen UID:
42017
Concept ID:
C0016049
Finding
Generalized or localized diffuse fibrous overgrowth of the gingival tissue, usually transmitted as an autosomal dominant trait, but some cases are idiopathic and others produced by drugs. The enlarged gingiva is pink, firm, and has a leather-like consistency with a minutely pebbled surface and in severe cases the teeth are almost completely covered and the enlargement projects into the oral vestibule. (Dorland, 28th ed)
Gingival overgrowth
MedGen UID:
87712
Concept ID:
C0376480
Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Progressive flexion contractures
MedGen UID:
480952
Concept ID:
C3279322
Finding
Progressively worsening joint contractures.
Subcutaneous nodule
MedGen UID:
101803
Concept ID:
C0151811
Pathologic Function
A small palpable mass in the subcutaneous tissues.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyaline fibromatosis syndrome

Recent clinical studies

Diagnosis

Haidar Z, Temanni R, Chouery E, Jithesh P, Liu W, Al-Ali R, Wang E, Marincola FM, Jalkh N, Haddad S, Haidar W, Chouchane L, Mégarbané A
BMC Genet 2017 Jan 19;18(1):3. doi: 10.1186/s12863-017-0471-0. PMID: 28103792Free PMC Article
Marques SA, Stolf HO, Polizel JO, Munhoz T, Brandão MC, Marques ME
An Bras Dermatol 2016 Apr;91(2):226-9. doi: 10.1590/abd1806-4841.20163799. PMID: 27192526Free PMC Article
Jaouad IC, Guaoua S, Hajjioui A, Sefiani A
J Med Case Rep 2014 Sep 3;8:291. doi: 10.1186/1752-1947-8-291. PMID: 25186005Free PMC Article
Van Raak SM, Meuffels DE, Van Leenders GJ, Oei EH
Skeletal Radiol 2014 Apr;43(4):531-4. Epub 2013 Oct 17 doi: 10.1007/s00256-013-1746-9. PMID: 24132693
Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S, Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS
Am J Med Genet A 2012 Apr;158A(4):732-42. Epub 2012 Mar 1 doi: 10.1002/ajmg.a.35228. PMID: 22383261Free PMC Article

Prognosis

Van Raak SM, Meuffels DE, Van Leenders GJ, Oei EH
Skeletal Radiol 2014 Apr;43(4):531-4. Epub 2013 Oct 17 doi: 10.1007/s00256-013-1746-9. PMID: 24132693

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