POIKTMP
MCID: PKL002
MIFTS: 33

Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MalaCards integrated aliases for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

Name: Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 57 20 72 36 29 6 70
Poiktmp 57 25 20 43 72
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 25 20 43
Hereditary Sclerosing Poikiloderma with Tendon and Pulmonary Involvement 20 43 72
Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome 20 58
Poiktmp Syndrome 20 58
Poikiloderma, Hereditary Fibrosing, Tendon Contractures, Myopathy, Pulmonary Fibrosis 39
Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement 57
Hfp 43

Characteristics:

Orphanet epidemiological data:

58
hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
patients require achilles tendon lengthening in first or second decade of life


HPO:

31
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance To the authors' knowledge the penetrance of poiktmp is 100% with occurrence of skin features in early childhood.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare respiratory diseases
Rare skin diseases


Summaries for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MedlinePlus Genetics : 43 Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts of the body, particularly the skin, muscles, lungs, and pancreas. Signs and symptoms vary among affected individuals.People with POIKTMP have patchy changes in skin coloring and small clusters of blood vessels just under the skin (telangiectases), a combination known as poikiloderma. These skin changes begin in infancy and occur primarily on the face. They can also have red, scaly skin patches and mild swelling (lymphedema) of the arms and legs; thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma); and abnormal hardening (sclerosis) of tissues in the fingers and toes. People with this disorder usually have sparse scalp hair, and their eyelashes and eyebrows can also be sparse or absent. Affected individuals have a decreased ability to sweat (hypohidrosis), which impairs their ability to tolerate heat.Reduced movement of joints (contractures) caused by shortening of the connective tissues that attach muscles to bone (tendons) usually develops during childhood in people with POIKTMP. These contractures often affect the calf, resulting in turning in (valgus deformity) of the feet. Contractures can also affect the elbows and wrists. In addition, people with POIKTMP usually develop muscle weakness (myopathy) in the arms and legs, and medical imaging shows abnormal fatty tissue in the muscles.Adults with POIKTMP can develop a condition called pulmonary fibrosis, in which scar tissue forms in the lungs. Pulmonary fibrosis eventually causes difficulty breathing and can be life-threatening within a few years after symptoms begin.In addition to the skin, muscle, and lung problems that give this condition its name, people with POIKTMP can also have a shortage (deficiency) of enzymes produced by the pancreas to aid in the digestion of fats. This deficiency can lead to diarrhea and poor absorption of fats and fat-soluble vitamins. Liver problems, short stature, and delayed puberty can also occur in affected individuals. Intellectual development is not affected by this disorder.

MalaCards based summary : Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis, also known as poiktmp, is related to anhidrosis and exocrine pancreatic insufficiency. An important gene associated with Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis is FAM111B (FAM111 Trypsin Like Peptidase B). Affiliated tissues include skin, pancreas and heart, and related phenotypes are scoliosis and cataract

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 221043 Definition Hereditary fibrosing poikiloderma-tendon contractures -myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

OMIM® : 57 Poikiloderma, characterized by mottled pigmentation, telangiectasia, and epidermal atrophy, can be accompanied by tendon contractures, myopathy, and progressive pulmonary fibrosis. Clinical manifestations include poikiloderma from early childhood with telangiectasia and pigmentary anomalies on sun-exposed areas, tendon contractures that tend to involve the ankles and feet with gait disturbances, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. Additional features include heat intolerance, reduced sweating, and thin hair (summary by Mercier et al., 2013). (615704) (Updated 20-May-2021)

KEGG : 36 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant disorder caused by mutations in FAM111B. Clinical manifestations are poikiloderma from early childhood and telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas. Scalp hair, eyelashes, and eyebrows are typically sparse. Tendon contractures especially involve the ankles and feet and cause gait disturbance. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs. Pulmonary involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency, liver impairment, hematologic abnormalities, relative short stature, and cataract.

UniProtKB/Swiss-Prot : 72 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function.

Wikipedia : 73 Hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis is a rare... more...

GeneReviews: NBK390610

Related Diseases for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 anhidrosis 10.6
2 exocrine pancreatic insufficiency 10.6
3 dowling-degos disease 1 10.5
4 exanthem 10.5
5 scoliosis 10.5
6 hereditary lymphedema i 10.5
7 dermatitis 10.5
8 palmoplantar keratosis 10.5
9 systemic scleroderma 10.5
10 hypotrichosis 10.5
11 fibrosis of extraocular muscles, congenital, 1 10.2
12 pulmonary fibrosis 10.2
13 myopathy 10.2
14 disseminated infection with mycobacterium avium complex 10.0
15 xeroderma pigmentosum, variant type 9.9
16 deficiency anemia 9.9
17 heart disease 9.9
18 guillain-barre syndrome 9.9
19 cockayne syndrome 9.9
20 congestive heart failure 9.9
21 priapism 9.9
22 trichothiodystrophy 9.9
23 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:



Diseases related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Symptoms & Phenotypes for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Human phenotypes related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 cataract 31 occasional (7.5%) HP:0000518
3 delayed puberty 31 occasional (7.5%) HP:0000823
4 nail dysplasia 31 occasional (7.5%) HP:0002164
5 erysipelas 31 occasional (7.5%) HP:0001055
6 muscle weakness 31 HP:0001324
7 hepatomegaly 31 HP:0002240
8 skeletal muscle atrophy 31 HP:0003202
9 hypohidrosis 31 HP:0000966
10 alopecia 31 HP:0001596
11 elevated serum creatine kinase 31 HP:0003236
12 pulmonary fibrosis 31 HP:0002206
13 poikiloderma 31 HP:0001029

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
elevated serum creatine kinase

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Eyes:
cataract (rare)
eyebrows sparse or absent
eyelashes sparse or absent

Growth Height:
growth retardation (in some patients)

Head And Neck Head:
scalp hair sparse or absent

Abdomen Pancreas:
fatty infiltration of pancreas (rare)

Skin Nails Hair Skin Histology:
atrophy of epidermis
enlarged and fragmented elastic fibers
elastic globules in papillary dermis
diffuse collagen sclerosis

Skin Nails Hair Hair:
hypotrichosis and/or alopecia, primarily involving scalp hair, eyebrows, and eyelashes

Muscle Soft Tissue:
muscle wasting
contractures of distal lower limbs
contractures of upper limbs (in some patients)
muscle weakness of proximal and distal upper and lower limbs
myogenic profile on electromyography
more
Respiratory Lung:
interstitial pulmonary fibrosis
restrictive syndrome

Endocrine Features:
delayed puberty (in some patients)

Abdomen Liver:
hepatomegaly (rare)

Head And Neck Face:
poikiloderma, congenital

Skin Nails Hair Skin:
congenital poikiloderma on face and exposed skin
telangiectatic lesions
hypohidrosis and/or heat intolerance
eczema-like lesions (in some patients)
erysipelas (in some patients)
more
Skin Nails Hair Nails:
nail dysplasia (rare)

Clinical features from OMIM®:

615704 (Updated 20-May-2021)

Drugs & Therapeutics for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Search Clinical Trials , NIH Clinical Center for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Genetic Tests for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Genetic tests related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

# Genetic test Affiliating Genes
1 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 29 FAM111B

Anatomical Context for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

MalaCards organs/tissues related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

40
Skin, Pancreas, Heart, Skeletal Muscle

Publications for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Articles related to Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

(show all 16)
# Title Authors PMID Year
1
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. 6 25 57
24268661 2013
2
Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome? 25 57 6
17034542 2006
3
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. 6 25 61
26471370 2015
4
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. 6 25
26495788 2016
5
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. 25
27406236 2017
6
Uncovering Hidden Layers of Cell Cycle Regulation through Integrative Multi-omic Analysis. 25
26439921 2015
7
Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia. 25
22711845 2012
8
Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? 25
18952524 2008
9
Epilepsy and myopathy in a patient with Rothmund-Thomson's syndrome. 25
6768225 1980
10
Inherited skin disorders presenting with poikiloderma. 61
33739439 2021
11
Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM111B mutation. 61
31392773 2019
12
Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients. 61
30972747 2019
13
A case of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP) with the emphasis on cutaneous histopathological findings. 61
29578632 2018
14
[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report]. 61
30341002 2018
15
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 61
27748098 2016
16
CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). 61
26443268 2016

Variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

ClinVar genetic disease variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM111B NM_198947.4(FAM111B):c.847dup (p.Ile283fs) Duplication Pathogenic 1033670 GRCh37: 11:58892410-58892411
GRCh38: 11:59124937-59124938
2 FAM111B NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp) SNV Pathogenic 120217 rs587777236 GRCh37: 11:58893431-58893431
GRCh38: 11:59125958-59125958
3 FAM111B NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly) SNV Pathogenic 120218 rs587777237 GRCh37: 11:58893449-58893449
GRCh38: 11:59125976-59125976
4 FAM111B NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn) SNV Pathogenic 120219 rs587777238 GRCh37: 11:58893453-58893453
GRCh38: 11:59125980-59125980
5 FAM111B NM_198947.4(FAM111B):c.1289A>C (p.Gln430Pro) SNV Pathogenic 265954 rs551644836 GRCh37: 11:58892859-58892859
GRCh38: 11:59125386-59125386
6 FAM111B NM_198947.4(FAM111B):c.1874C>A (p.Thr625Asn) SNV Pathogenic 265955 rs886039852 GRCh37: 11:58893444-58893444
GRCh38: 11:59125971-59125971
7 FAM111B NM_198947.4(FAM111B):c.1262_1264del (p.Lys421del) Deletion Pathogenic 265953 rs886039851 GRCh37: 11:58892831-58892833
GRCh38: 11:59125358-59125360
8 FAM111B NM_198947.4(FAM111B):c.1954_1955del (p.Ser652fs) Deletion Pathogenic 1030417 GRCh37: 11:58893523-58893524
GRCh38: 11:59126050-59126051
9 FAM111B NM_198947.4(FAM111B):c.671C>G (p.Ala224Gly) SNV Uncertain significance 1030418 GRCh37: 11:58892241-58892241
GRCh38: 11:59124768-59124768
10 FAM111B NM_198947.4(FAM111B):c.368_369insCT (p.Gln124fs) Insertion Uncertain significance 1033669 GRCh37: 11:58891938-58891939
GRCh38: 11:59124465-59124466

UniProtKB/Swiss-Prot genetic disease variations for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis:

72
# Symbol AA change Variation ID SNP ID
1 FAM111B p.Tyr621Asp VAR_070953 rs587777236
2 FAM111B p.Arg627Gly VAR_070954 rs587777237
3 FAM111B p.Ser628Asn VAR_070955 rs587777238

Expression for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Search GEO for disease gene expression data for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis.

Pathways for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

GO Terms for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

Sources for Poikiloderma, Hereditary Fibrosing, with Tendon Contractures,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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