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Acroosteolysis-keloid-like lesions-premature aging syndrome(PENTT)

MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Synonyms: Premature aging syndrome, Penttinen type; Prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly; Progeroid syndrome, Penttinen type
SNOMED CT: Acroosteolysis, keloid-like lesions, premature aging syndrome (776417008); Premature aging syndrome, Penttinen type (776417008); Premature ageing syndrome Penttinen type (776417008)
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.
 
Gene (location): PDGFRB (5q32)
 
Monarch Initiative: MONDO:0011150
OMIM®: 601812
Orphanet: ORPHA363665

Definition

Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Osteolytic defects of the distal phalanges of the hand
MedGen UID:
341480
Concept ID:
C1849547
Finding
Hyperextensibility of the knee
MedGen UID:
869375
Concept ID:
C4023802
Anatomical Abnormality
The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Retrocerebellar cyst
MedGen UID:
335172
Concept ID:
C1845370
Finding
Posterior fossa cyst
MedGen UID:
341753
Concept ID:
C1857353
Finding
A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.
Joint contracture
MedGen UID:
3228
Concept ID:
C0009918
Anatomical Abnormality
A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Keloid
MedGen UID:
7197
Concept ID:
C0022548
Acquired Abnormality
An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Cervical rib
MedGen UID:
102359
Concept ID:
C0158779
Congenital Abnormality
Presence of rib formation in the cervical region.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Delayed cranial suture closure
MedGen UID:
75805
Concept ID:
C0277828
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Ribs with a reduced diameter.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Lipoatrophy
MedGen UID:
488959
Concept ID:
C1280433
Disease or Syndrome
Localized loss of fat tissue.
Slender long bone
MedGen UID:
331446
Concept ID:
C1833144
Finding
Reduced diameter of a long bone.
Thin calvarium
MedGen UID:
341097
Concept ID:
C1856231
Finding
The presence of an abnormally thin calvarium.
Flexion contracture of finger
MedGen UID:
387792
Concept ID:
C1857304
Finding
Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Aplasia of the nasal bone
MedGen UID:
869213
Concept ID:
C4023635
Finding
Absence of the nasal bone.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Narrow nose
MedGen UID:
98086
Concept ID:
C0426422
Finding
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Thin vermilion border
MedGen UID:
108294
Concept ID:
C0578038
Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Prominent nasal bridge
MedGen UID:
343051
Concept ID:
C1854113
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Narrow philtrum
MedGen UID:
866764
Concept ID:
C4021115
Finding
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.
Skin nodule
MedGen UID:
52367
Concept ID:
C0037287
Finding
Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
Thickened skin
MedGen UID:
66024
Concept ID:
C0241165
Finding
Laminar thickening of skin.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Prominent superficial veins
MedGen UID:
324870
Concept ID:
C1837785
Finding
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
Prematurely aged appearance
MedGen UID:
346633
Concept ID:
C1857656
Finding
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Elevated circulating thyroid-stimulating hormone concentration
MedGen UID:
108325
Concept ID:
C0586553
Finding
Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Corneal stromal edema
MedGen UID:
96883
Concept ID:
C0474444
Finding
Abnormal accumulation of fluid and swelling of the stroma of cornea.
Hypermyelinated retinal nerve fibers
MedGen UID:
336515
Concept ID:
C1849151
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcroosteolysis-keloid-like lesions-premature aging syndrome
Follow this link to review classifications for Acroosteolysis-keloid-like lesions-premature aging syndrome in Orphanet.

Professional guidelines

PubMed

Cederholm T, Jensen GL, Correia MITD, Gonzalez MC, Fukushima R, Higashiguchi T, Baptista G, Barazzoni R, Blaauw R, Coats A, Crivelli A, Evans DC, Gramlich L, Fuchs-Tarlovsky V, Keller H, Llido L, Malone A, Mogensen KM, Morley JE, Muscaritoli M, Nyulasi I, Pirlich M, Pisprasert V, de van der Schueren MAE, Siltharm S, Singer P, Tappenden K, Velasco N, Waitzberg D, Yamwong P, Yu J, Van Gossum A, Compher C; GLIM Core Leadership Committee; GLIM Working Group
Clin Nutr 2019 Feb;38(1):1-9. Epub 2018 Sep 3 doi: 10.1016/j.clnu.2018.08.002. PMID: 30181091
Jasti AK, Selmi C, Sarmiento-Monroy JC, Vega DA, Anaya JM, Gershwin ME
Expert Rev Clin Immunol 2016 Nov;12(11):1175-1189. Epub 2016 Jun 21 doi: 10.1080/1744666X.2016.1193006. PMID: 27292311
Hugo J, Ganguli M
Clin Geriatr Med 2014 Aug;30(3):421-42. Epub 2014 Jun 12 doi: 10.1016/j.cger.2014.04.001. PMID: 25037289Free PMC Article

Recent clinical studies

Etiology

Sfeir JG, Drake MT, Khosla S, Farr JN
Mayo Clin Proc 2022 Jun;97(6):1194-1208. doi: 10.1016/j.mayocp.2022.03.011. PMID: 35662432Free PMC Article
Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC
Aging Cell 2021 Sep;20(9):e13459. Epub 2021 Aug 25 doi: 10.1111/acel.13459. PMID: 34431594Free PMC Article
Cho SJ, Stout-Delgado HW
Annu Rev Physiol 2020 Feb 10;82:433-459. Epub 2019 Nov 15 doi: 10.1146/annurev-physiol-021119-034610. PMID: 31730381Free PMC Article
Khan KT, Hemati K, Donovan AL
Anesthesiol Clin 2019 Sep;37(3):453-474. Epub 2019 Jun 18 doi: 10.1016/j.anclin.2019.04.006. PMID: 31337478
Batsis JA, Villareal DT
Nat Rev Endocrinol 2018 Sep;14(9):513-537. doi: 10.1038/s41574-018-0062-9. PMID: 30065268Free PMC Article

Diagnosis

Abraham CR, Li A
Ageing Res Rev 2022 Dec;82:101766. Epub 2022 Oct 22 doi: 10.1016/j.arr.2022.101766. PMID: 36283617
Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC
Aging Cell 2021 Sep;20(9):e13459. Epub 2021 Aug 25 doi: 10.1111/acel.13459. PMID: 34431594Free PMC Article
Risacher SL, Saykin AJ
Handb Clin Neurol 2019;167:191-227. doi: 10.1016/B978-0-12-804766-8.00012-1. PMID: 31753134Free PMC Article
Khan KT, Hemati K, Donovan AL
Anesthesiol Clin 2019 Sep;37(3):453-474. Epub 2019 Jun 18 doi: 10.1016/j.anclin.2019.04.006. PMID: 31337478
Landi F, Picca A, Calvani R, Marzetti E
Clin Geriatr Med 2017 Aug;33(3):315-323. Epub 2017 May 20 doi: 10.1016/j.cger.2017.02.004. PMID: 28689565

Therapy

Sfeir JG, Drake MT, Khosla S, Farr JN
Mayo Clin Proc 2022 Jun;97(6):1194-1208. doi: 10.1016/j.mayocp.2022.03.011. PMID: 35662432Free PMC Article
Abdellatif M, Sedej S, Kroemer G
Circulation 2021 Nov 30;144(22):1795-1817. Epub 2021 Nov 29 doi: 10.1161/CIRCULATIONAHA.121.056589. PMID: 34843394
Fuchs FD, Whelton PK
Hypertension 2020 Feb;75(2):285-292. Epub 2019 Dec 23 doi: 10.1161/HYPERTENSIONAHA.119.14240. PMID: 31865786Free PMC Article
Madersbacher S, Sampson N, Culig Z
Gerontology 2019;65(5):458-464. Epub 2019 Apr 3 doi: 10.1159/000496289. PMID: 30943489
Yousefzadeh MJ, Zhu Y, McGowan SJ, Angelini L, Fuhrmann-Stroissnigg H, Xu M, Ling YY, Melos KI, Pirtskhalava T, Inman CL, McGuckian C, Wade EA, Kato JI, Grassi D, Wentworth M, Burd CE, Arriaga EA, Ladiges WL, Tchkonia T, Kirkland JL, Robbins PD, Niedernhofer LJ
EBioMedicine 2018 Oct;36:18-28. Epub 2018 Sep 29 doi: 10.1016/j.ebiom.2018.09.015. PMID: 30279143Free PMC Article

Prognosis

Savarese G, Becher PM, Lund LH, Seferovic P, Rosano GMC, Coats AJS
Cardiovasc Res 2023 Jan 18;118(17):3272-3287. doi: 10.1093/cvr/cvac013. PMID: 35150240
Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC
Aging Cell 2021 Sep;20(9):e13459. Epub 2021 Aug 25 doi: 10.1111/acel.13459. PMID: 34431594Free PMC Article
Roger VL
Circ Res 2021 May 14;128(10):1421-1434. Epub 2021 May 13 doi: 10.1161/CIRCRESAHA.121.318172. PMID: 33983838
Batsis JA, Villareal DT
Nat Rev Endocrinol 2018 Sep;14(9):513-537. doi: 10.1038/s41574-018-0062-9. PMID: 30065268Free PMC Article
Pengo MF, Won CH, Bourjeily G
Chest 2018 Jul;154(1):196-206. Epub 2018 Apr 19 doi: 10.1016/j.chest.2018.04.005. PMID: 29679598Free PMC Article

Clinical prediction guides

Atkins JL, Jylhävä J, Pedersen NL, Magnusson PK, Lu Y, Wang Y, Hägg S, Melzer D, Williams DM, Pilling LC
Aging Cell 2021 Sep;20(9):e13459. Epub 2021 Aug 25 doi: 10.1111/acel.13459. PMID: 34431594Free PMC Article
Upadhya B, Kitzman DW
Clin Cardiol 2020 Feb;43(2):145-155. Epub 2019 Dec 26 doi: 10.1002/clc.23321. PMID: 31880340Free PMC Article
Fuchs FD, Whelton PK
Hypertension 2020 Feb;75(2):285-292. Epub 2019 Dec 23 doi: 10.1161/HYPERTENSIONAHA.119.14240. PMID: 31865786Free PMC Article
Khan KT, Hemati K, Donovan AL
Anesthesiol Clin 2019 Sep;37(3):453-474. Epub 2019 Jun 18 doi: 10.1016/j.anclin.2019.04.006. PMID: 31337478
Batsis JA, Villareal DT
Nat Rev Endocrinol 2018 Sep;14(9):513-537. doi: 10.1038/s41574-018-0062-9. PMID: 30065268Free PMC Article

Recent systematic reviews

Huang CY, Mayer PK, Wu MY, Liu DH, Wu PC, Yen HR
Ageing Res Rev 2022 Dec;82:101747. Epub 2022 Oct 9 doi: 10.1016/j.arr.2022.101747. PMID: 36223875
Huijben M, Lock MTWT, de Kemp VF, de Kort LMO, van Breda HMK
Andrology 2022 Mar;10(3):451-469. Epub 2022 Jan 8 doi: 10.1111/andr.13146. PMID: 34933414
Nair AR, Pillai AJ, Nair N
Curr Cardiol Rev 2021;17(4):e230421187681. doi: 10.2174/1573403X16666201106141811. PMID: 33155924Free PMC Article
Smith BE, Selfe J, Thacker D, Hendrick P, Bateman M, Moffatt F, Rathleff MS, Smith TO, Logan P
PLoS One 2018;13(1):e0190892. Epub 2018 Jan 11 doi: 10.1371/journal.pone.0190892. PMID: 29324820Free PMC Article
Xu W, Tan L, Wang HF, Jiang T, Tan MS, Tan L, Zhao QF, Li JQ, Wang J, Yu JT
J Neurol Neurosurg Psychiatry 2015 Dec;86(12):1299-306. Epub 2015 Aug 20 doi: 10.1136/jnnp-2015-310548. PMID: 26294005

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