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Redundant skin

MedGen UID:
154379
Concept ID:
C0581342
Pathologic Function
Synonyms: Loose redundant skin; Loose, redundant skin; Redundant skin folds; Sagging, redundant skin
SNOMED CT: Redundant skin (201093004)
 
HPO: HP:0001582

Definition

Loose and sagging skin often associated with loss of skin elasticity. [from HPO]

Conditions with this feature

Cutis laxa, autosomal recessive, type 1A
MedGen UID:
78663
Concept ID:
C0268351
Congenital Abnormality
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Cutis laxa, X-linked
MedGen UID:
82793
Concept ID:
C0268353
Congenital Abnormality
Occipital horn syndrome (OHS) is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the occiput are a common feature, giving rise to the name (summary by Das et al., 1995).
Cutis laxa with osteodystrophy
MedGen UID:
82795
Concept ID:
C0268355
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Wrinkly skin syndrome
MedGen UID:
98030
Concept ID:
C0406587
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
GAPO syndrome
MedGen UID:
98034
Concept ID:
C0406723
Disease or Syndrome
GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.
Barber-Say syndrome
MedGen UID:
230818
Concept ID:
C1319466
Disease or Syndrome
Barber-Say syndrome (BBRSAY) is a rare congenital condition characterized by severe hypertrichosis, especially of the back, skin abnormalities such as hyperlaxity and redundancy, and facial dysmorphism, including macrostomia, eyelid deformities, ocular telecanthus, abnormal and low-set ears, bulbous nasal tip with hypoplastic alae nasi, and low frontal hairline (summary by Roche et al., 2010).
Spondylometaphyseal dysplasia, Sedaghatian type
MedGen UID:
340816
Concept ID:
C1855229
Disease or Syndrome
Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).
Ablepharon macrostomia syndrome
MedGen UID:
395439
Concept ID:
C1860224
Disease or Syndrome
Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015).
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
MedGen UID:
393098
Concept ID:
C2674173
Congenital Abnormality
SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans) is a very rare skeletal dysplasia characterized by the constellation of these features. Radiology reveals 'ram's horn' shaped clavicles and reverse bowing of lower limbs. Approximately half of patients die before the fourth week of life secondary to respiratory failure (summary by Zankl et al., 2008).
Fontaine progeroid syndrome
MedGen UID:
394125
Concept ID:
C2676780
Disease or Syndrome
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.
Ehlers-Danlos syndrome, dermatosparaxis type
MedGen UID:
397792
Concept ID:
C2700425
Disease or Syndrome
Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human.
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
MedGen UID:
442566
Concept ID:
C2750804
Disease or Syndrome
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.
RIN2 syndrome
MedGen UID:
416526
Concept ID:
C2751321
Disease or Syndrome
A very rare inherited connective tissue disorder with characteristics of macrocephaly, sparse scalp hair, soft redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rare manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Caused by homozygous mutation in the RIN2 gene on chromosome 20p11.
Autosomal recessive cutis laxa type 2B
MedGen UID:
414526
Concept ID:
C2751987
Disease or Syndrome
The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Cutis laxa, autosomal dominant 1
MedGen UID:
478169
Concept ID:
C3276539
Disease or Syndrome
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Renal hypodysplasia/aplasia 2
MedGen UID:
816689
Concept ID:
C3810359
Disease or Syndrome
Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830).
Autosomal recessive cutis laxa type 2D
MedGen UID:
1376619
Concept ID:
C4479409
Disease or Syndrome
Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
Rahman syndrome
MedGen UID:
1388282
Concept ID:
C4479637
Disease or Syndrome
The name HIST1H1E syndrome has been proposed as a mnemonic for the characteristic features of this emerging, recognizable phenotype: hypotonia; intellectual disability with behavioral issues; skeletal; testes (undescended) and thyroid; heart anomalies (most commonly atrial septal defect); and ectodermal issues (including sparse hair, thin nails, and abnormal dentition). In the 47 affected individuals reported to date, predominant findings were intellectual disability (ranging from mild to profound) and behavioral problems (combinations of anxiety/phobias, obsessive behaviors, attention-deficit/hyperactivity disorder, and autistic spectrum disorder/traits among others). Skeletal involvement can include scoliosis and decreased bone mineral density. Other findings in some include seizures, craniosynostosis, and hearing loss. Life expectancy does not appear to be reduced in HIST1H1E syndrome.
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
MedGen UID:
1641972
Concept ID:
C4551679
Disease or Syndrome
Autosomal recessive primary hypertrophic osteoarthropathy-1 (PHOAR1) is a rare familial disorder characterized by digital clubbing, osteoarthropathy, and acroosteolysis, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease (summary by Uppal et al., 2008; Radhakrishnan et al., 2020). Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic Heterogeneity Autosomal recessive primary hypertrophic osteoarthropathy-2-enteropathy syndrome (PHOAR2E; 614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22. Families with an autosomal dominant form of primary hypertrophic osteoarthropathy, in which patients may also experience gastrointestinal symptoms, have been reported (PHOAD; 167100).
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000.
Mitochondrial complex 1 deficiency, nuclear type 30
MedGen UID:
1648313
Concept ID:
C4746985
Disease or Syndrome

Professional guidelines

PubMed

Brühlmann J, Lese I, O Grobbelaar A, Fischlin C, Constantinescu M, Olariu R
Swiss Med Wkly 2022 Feb 28;152:w30131. Epub 2022 Mar 10 doi: 10.4414/smw.2022.w30131. PMID: 35315267
Rosen J, Darwin E, Tuchayi SM, Garibyan L, Yosipovitch G
J Am Acad Dermatol 2019 Nov;81(5):1059-1069. doi: 10.1016/j.jaad.2018.10.081. PMID: 31610858
Goldfarb CA, Monroe E, Steffen J, Manske PR
J Hand Surg Am 2009 Sep;34(7):1291-7. Epub 2009 Jun 18 doi: 10.1016/j.jhsa.2009.04.001. PMID: 19540079

Recent clinical studies

Etiology

Myers PL, Bossert RP
Clin Plast Surg 2019 Jan;46(1):85-90. Epub 2018 Oct 22 doi: 10.1016/j.cps.2018.08.011. PMID: 30447832
Pastorek N, Bradford B
Facial Plast Surg 2018 Feb;34(1):43-49. Epub 2018 Feb 6 doi: 10.1055/s-0037-1615824. PMID: 29409103
Patoué A, De Runz A, Carloni R, Aillet S, Watier E, Bertheuil N
J Plast Surg Hand Surg 2018 Apr;52(2):74-79. Epub 2017 Jul 14 doi: 10.1080/2000656X.2017.1335642. PMID: 28708441
Dini M, Mori A, Cassi LC, Lo Russo G, Lucchese M
Obes Surg 2008 Nov;18(11):1392-9. Epub 2008 May 7 doi: 10.1007/s11695-008-9498-7. PMID: 18461422
Moody BR, Sengelmann R
Skin Therapy Lett 2004 Jun-Jul;9(6):6-9. PMID: 15334280

Diagnosis

Chen WF, Pandey SK, Lensing JN
Lymphology 2023;56(1):3-12. PMID: 38019875
Cauzzo C, Chiavaroli V, Palka Bayard de Volo C, Petrucci A, Topazio T, Di Donato G, Fiorentino R, Chiarelli F, Di Valerio S
Birth Defects Res 2023 Jul 1;115(12):1169-1173. Epub 2023 May 24 doi: 10.1002/bdr2.2187. PMID: 37222187
Beyens A, Boel A, Symoens S, Callewaert B
Clin Genet 2021 Jan;99(1):53-66. Epub 2020 Oct 27 doi: 10.1111/cge.13865. PMID: 33058140
Philip N, Sigaudy S
J Med Genet 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. PMID: 9541110Free PMC Article
Langley KE, Patrinely JR, Anderson RL, Thiese SM
Ophthalmic Surg 1987 Aug;18(8):594-8. PMID: 3658315

Therapy

Chen WF, Pandey SK, Lensing JN
Lymphology 2023;56(1):3-12. PMID: 38019875
Gilbert MM, Anderson SR, Abtahi AR
Aesthet Surg J 2023 Jul 15;43(8):856-868. doi: 10.1093/asj/sjad112. PMID: 37093978
Friedman O, Isman G, Koren A, Shoshany H, Sprecher E, Artzi O
J Cosmet Dermatol 2020 Apr;19(4):850-854. Epub 2020 Feb 3 doi: 10.1111/jocd.13313. PMID: 32011076
Rosen J, Darwin E, Tuchayi SM, Garibyan L, Yosipovitch G
J Am Acad Dermatol 2019 Nov;81(5):1059-1069. doi: 10.1016/j.jaad.2018.10.081. PMID: 31610858
Patoué A, De Runz A, Carloni R, Aillet S, Watier E, Bertheuil N
J Plast Surg Hand Surg 2018 Apr;52(2):74-79. Epub 2017 Jul 14 doi: 10.1080/2000656X.2017.1335642. PMID: 28708441

Prognosis

Hunstad J, Chen C, Abbed T
Clin Plast Surg 2019 Jan;46(1):77-84. Epub 2018 Oct 22 doi: 10.1016/j.cps.2018.08.010. PMID: 30447831
Dini M, Mori A, Cassi LC, Lo Russo G, Lucchese M
Obes Surg 2008 Nov;18(11):1392-9. Epub 2008 May 7 doi: 10.1007/s11695-008-9498-7. PMID: 18461422
Stevens CA, Sargent LA
Am J Med Genet 2002 Jan 1;107(1):30-7. doi: 10.1002/ajmg.10123. PMID: 11807864
Philip N, Sigaudy S
J Med Genet 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. PMID: 9541110Free PMC Article
McCarthy GT, West CM
Dev Med Child Neurol 1977 Oct;19(5):659-63. doi: 10.1111/j.1469-8749.1977.tb07999.x. PMID: 913905

Clinical prediction guides

Cauzzo C, Chiavaroli V, Palka Bayard de Volo C, Petrucci A, Topazio T, Di Donato G, Fiorentino R, Chiarelli F, Di Valerio S
Birth Defects Res 2023 Jul 1;115(12):1169-1173. Epub 2023 May 24 doi: 10.1002/bdr2.2187. PMID: 37222187
Kurobe M, Baba Y, Hiramatsu T, Otsuka M
Pediatr Int 2021 May;63(5):570-574. Epub 2021 Mar 25 doi: 10.1111/ped.14466. PMID: 32931082
Hunstad J, Chen C, Abbed T
Clin Plast Surg 2019 Jan;46(1):77-84. Epub 2018 Oct 22 doi: 10.1016/j.cps.2018.08.010. PMID: 30447831
Pastorek N, Bradford B
Facial Plast Surg 2018 Feb;34(1):43-49. Epub 2018 Feb 6 doi: 10.1055/s-0037-1615824. PMID: 29409103
Patoué A, De Runz A, Carloni R, Aillet S, Watier E, Bertheuil N
J Plast Surg Hand Surg 2018 Apr;52(2):74-79. Epub 2017 Jul 14 doi: 10.1080/2000656X.2017.1335642. PMID: 28708441

Recent systematic reviews

Majumder KR, Shrivastava A, Maitra D, Siddique MI, Rahman MM
Mymensingh Med J 2024 Jan;33(1):160-167. PMID: 38163788
Toma T, Harling L, Athanasiou T, Darzi A, Ashrafian H
Obes Surg 2018 Oct;28(10):3333-3341. doi: 10.1007/s11695-018-3323-8. PMID: 30069862Free PMC Article

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