Paula and Bobby
Parents of Lillie
Amyloidosis, Primary Localized Cutaneous, 1; PLCA1
What is Amyloidosis, Primary Localized Cutaneous, 1; PLCA1?
Amyloidosis, Primary Localized Cutaneous, 1; PLCA1 is a rare disease. It is also known as Amyloidosis Ix Amyloidosis, Familial Cutaneous Lichen Amyloidosis, Primary Cutaneous, 1; Pca1 Lichen Amyloidosis, Familial Pca.
Primary cutaneous amyloidosis can involve the skin in many ways. There is a papular form (lichen amyloidosis), a macular form and a rare nodular form (Criado et al., 2005). Amyloidosis cutis dyschromica is characterized by reticulate hyperpigmentation and hypopigmentation, seen almost over the whole body. Two brothers with this condition were reported by Vijaikumar and Thappa (2001). Onset was in childhood and the lesions were mainly on the trunk. Sun exposure has been additionally implicated and the histology confirms the amyloid deposits. This condition must be differentiated from dyskeratosis congenita and 'dyschromatosis symmetrica hereditaria' - see elsewhere.
A family reported by Hartshorne (1999) had a dominantly inherited primary cutaneous amyloidosis. Onset was in childhood, with dryness and intense pruritis. Papules then developed over his legs, elbows and back. There were sheets of small lichenoid papules. This author noted 10 other families in the literature. A linkage study on 9 families implicated 1q23 (Lin et al., 2005). A large Brazilian family (and 1 rom the UK ans 1 from South Africa) mapped to 5p13.1-q11.2 (Arita et al., 2008). Mutations were found in OSMR (oncostatn M receptor-beta). Not all families have an OSMR mutation (Sakuma et al., 2009).
* This information is courtesy of the L M D.
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What gene changes cause Amyloidosis, Primary Localized Cutaneous, 1; PLCA1?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 105250 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
IL31RA - 5q11.2
OSMR - 5p13.1
What are the main symptoms of Amyloidosis, Primary Localized Cutaneous, 1; PLCA1?
The typical symptoms of the syndrome are:
Amyloidosis, Abnormal cranial nerve morphology, Lattice corneal dystrophy, Adult onset, Autosomal dominant inheritance, Pruritus, Peripheral neuropathy, Dysautonomia, Cutis laxa
How does someone get tested for Amyloidosis, Primary Localized Cutaneous, 1; PLCA1?
The initial testing for Amyloidosis, Primary Localized Cutaneous, 1; PLCA1 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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