Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 months of age, with few reports of adult onset. It can occur in three forms: solitary, multicentric or generalised. The solitary form is the commonest and occurs as a single cutaneous nodule. The multicentric form involves the skin, subcutaneous tissues, muscles, and bone. The course is generally benign, with no metastases and regression of the tumor over a period of 12 to 18 months. The generalized form is associated with visceral involvement. This condition has serious prognostic implications as there is a 76% mortality from cardiopulmonary or gastrointestinal complications. While most cases of IM appear to be sporadic, there have been several reports of autosomal dominant inheritance pattern. Mutations in the PDGFRB and NOTCH3 genes were recently identified in patients with IM. Treatment options vary widely. Solitary and even multicentric lesions that are confined to the skin and subcutaneous tissues without visceral involvement frequently regress spontaneously. However, calcification and atrophic scars can remain after lesion regression. Extensive surgery has been reported to be beneficial for multicentric disease, as has chemotherapy.
Category
Neoplasm
Brite
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign neoplasms except of mesenchymal origin
Benign cutaneous neoplasms
2F23 Benign dermal fibrous or fibrohistiocytic neoplasms
H01910 Infantile myofibromatosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H01910 Infantile myofibromatosis
DISEASE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
Entry
H00536 Disease
Name
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy; CADASIL
Subgroup
CADASIL
Description
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Cerebrovascular diseases
8B22 Certain specified cerebrovascular diseases
H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
Verdura E, Herve D, Scharrer E, Amador Mdel M, Guyant-Marechal L, Philippi A, Corlobe A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E
Title
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
DISEASE: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Entry
H01757 Disease
Name
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL
Description
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Cerebrovascular diseases
8B22 Certain specified cerebrovascular diseases
H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M
Title
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Hara K, Shiga A, Fukutake T, Nozaki H, Miyashita A, Yokoseki A, Kawata H, Koyama A, Arima K, Takahashi T, Ikeda M, Shiota H, Tamura M, Shimoe Y, Hirayama M, Arisato T, Yanagawa S, Tanaka A, Nakano I, Ikeda S, Yoshida Y, Yamamoto T, Ikeuchi T, Kuwano R, Nishizawa M, Tsuji S, Onodera O
Title
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears, and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA07 Structural developmental anomalies of the neurenteric canal, spinal cord or vertebral column
H01893 Lateral meningocele syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H01893 Lateral meningocele syndrome
