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Congenital anomaly of skin

MedGen UID:: 11449
•Concept ID:: C0037268
•: Congenital Abnormality

Synonyms:	Abnormalities, Skin; Abnormality, Skin; Skin Abnormalities; Skin Abnormality
SNOMED CT:	Congenital anomaly of skin (199879009); Congenital cutaneous anomaly (199879009); Congenital malformation of the skin (199879009); Congenital skin anomalies (199879009)

Definition

A skin abnormality that is present at birth or detected in the neonatal period. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital anomaly of skin

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of skin
        Acrodermatitis
        Anetoderma
        Aplasia cutis congenita
        Aplasia cutis congenita of scalp
        Aplasia cutis congenita over parietal area
        Aplasia cutis congenita over the scalp vertex
        Aplasia cutis congenita on trunk or limbs
        Carney complex
        Carney complex type 2
        Carney complex, type 1
        Dyskeratosis congenita
        Autosomal recessive dyskeratosis congenita
        Dyskeratosis congenita, autosomal recessive 1
        Dyskeratosis congenita, autosomal recessive 2
        Dyskeratosis congenita, autosomal recessive 3
        Dyskeratosis congenita, autosomal recessive 6
        Autosomal recessive dyskeratosis congenita 4
        Dyskeratosis congenita, autosomal dominant 1
        Dyskeratosis congenita, autosomal dominant 2
        Dyskeratosis congenita, autosomal dominant 3
        Dyskeratosis congenita, autosomal dominant 4
        Dyskeratosis congenita, autosomal dominant 6
        Dyskeratosis congenita, autosomal recessive 5
        Dyskeratosis congenita, X-linked
        Revesz syndrome
        Ectodermal dysplasia
        Ackerman syndrome
        Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
        Alopecia - contractures - dwarfism - intellectual disability syndrome
        Amelocerebrohypohidrotic syndrome
        Ameloonychohypohidrotic syndrome
        Anhidrotic ectodermal dysplasia
        Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
        Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
        Ankyloblepharon filiforme adnatum-cleft palate syndrome
        Ankyloblepharon filiforme-imperforate anus syndrome
        Anonychia with flexural pigmentation
        Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
        Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
        Autosomal dominant palmoplantar keratoderma and congenital alopecia
        Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
        Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
        Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
        Ectodermal dysplasia 15, hypohidrotic/hair type
        Autosomal recessive palmoplantar keratoderma and congenital alopecia
        Barber-Say syndrome
        Bartsocas-Papas syndrome 1
        Blepharocheilodontic syndrome
        Cardio-facio-cutaneous syndrome
        Cataract-hypertrichosis-intellectual disability syndrome
        Cerebellar ataxia-ectodermal dysplasia syndrome
        CHIME syndrome
        Chondroectodermal dysplasia with night blindness
        Choroidal atrophy-alopecia syndrome
        Cleft lip/palate-ectodermal dysplasia syndrome
        Conductive deafness-ptosis-skeletal anomalies syndrome
        Congenital hypotrichosis with juvenile macular dystrophy
        Contractures-ectodermal dysplasia-cleft lip/palate syndrome
        Cranioectodermal dysplasia
        Cranioectodermal dysplasia 1
        Cranioectodermal dysplasia 2
        Cranioectodermal dysplasia 3
        Cranioectodermal dysplasia 4
        Cronkhite-Canada syndrome
        Curly hair - acral keratoderma - caries syndrome
        Curly hair, ankyloblepharon, nail dysplasia syndrome
        Curry-Hall syndrome
        Dahlberg-Borer-Newcomer syndrome
        Deafness, enamel hypoplasia, nail defect syndrome
        Heimler syndrome 1
        Heimler syndrome 2
        Dennis-Fairhurst-Moore syndrome
        Dermatoosteolysis, Kirghizian type
        Dermatopathia pigmentosa reticularis
        Dermo-odonto dysplasia
        Dermotrichic syndrome
        Dubowitz syndrome
        Ectodermal dysplasia 8, hair/tooth/nail type
        Ectodermal dysplasia and immune deficiency
        Ectodermal dysplasia and immunodeficiency 1
        Ectodermal dysplasia and immunodeficiency 2
        Ectodermal dysplasia with natal teeth, Turnpenny type
        Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
        Ectodermal dysplasia, trichoodontoonychial type
        Ectodermal dysplasia-blindness syndrome
        Ectodermal dysplasia-cutaneous syndactyly syndrome
        Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
        Ectodermal dysplasia-sensorineural deafness syndrome
        Ectodermal dysplasia-syndactyly syndrome
        Ectrodactyly-ectodermal dysplasia-clefting syndrome
        EEM syndrome
        Ellis-van Creveld syndrome
        Epidermolysis bullosa simplex due to plakophilin deficiency
        Focal dermal hypoplasia
        Focal facial dermal dysplasia
        Focal facial dermal dysplasia type I
        Focal facial dermal dysplasia type II
        Focal facial dermal dysplasia type III
        Focal facial dermal dysplasia type IV
        Fontaine progeroid syndrome
        GAPO syndrome
        Gingival fibromatosis-hypertrichosis syndrome
        Hallermann-Streiff syndrome
        Hidrotic ectodermal dysplasia syndrome
        Hidrotic ectodermal dysplasia, Christianson-Fourie type
        Hidrotic ectodermal dysplasia, Halal type
        Hyperhidrosis, premature cavities and premolar aplasia
        Hypertrichosis cubiti-short stature syndrome
        Hypertrichosis lanuginosa congenita
        Ambras type hypertrichosis universalis congenita
        X-linked congenital generalized hypertrichosis
        Hypohidrotic ectodermal dysplasia
        Autosomal dominant hypohidrotic ectodermal dysplasia
        Autosomal hypohidrotic ectodermal dysplasia
        Hypohidrotic X-linked ectodermal dysplasia
        Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
        Hypoplastic enamel-onycholysis-hypohidrosis syndrome
        Hypotrichosis-intellectual disability, Lopes type
        Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
        Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
        Incontinentia pigmenti syndrome
        Johanson-Blizzard syndrome
        Johnson neuroectodermal syndrome
        Keratitis ichthyosis and deafness syndrome
        Lelis syndrome
        Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
        Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
        Marshall syndrome
        Metaphyseal chondrodysplasia, McKusick type
        Naegeli-Franceschetti-Jadassohn syndrome
        Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
        Neurocutaneous syndrome
        Ataxia-telangiectasia syndrome
        Gorlin syndrome
        Linear nevus sebaceous syndrome
        Neurofibromatosis
        Sturge-Weber syndrome
        Tuberous sclerosis syndrome
        Von Hippel-Lindau syndrome
        Oculodentodigital dysplasia
        Oculoosteocutaneous syndrome
        Oculotrichodysplasia
        Odonto-onycho dysplasia-alopecia syndrome
        Odonto-onycho-dermal dysplasia
        Odonto-tricho-ungual-digito-palmar syndrome
        Odontotrichomelic syndrome
        Orofaciodigital syndrome I
        Pachyonychia congenita syndrome
        Pachyonychia congenita 1
        Pachyonychia congenita 2
        Pachyonychia congenita 3
        Pachyonychia congenita 4
        Steatocystoma multiplex
        Papillon-Lefèvre syndrome
        Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
        Pili torti-onychodysplasia syndrome
        Pilodental dysplasia-refractive errors syndrome
        Pure hair and nail ectodermal dysplasia
        Scalp-ear-nipple syndrome
        SchC6pf-Schulz-Passarge syndrome
        Schinzel-Giedion syndrome
        Stern-Lubinsky-Durrie syndrome
        Teebi-Shaltout syndrome
        Thumb deformity-alopecia-pigmentation anomaly syndrome
        Toriello-Lacassie-Droste syndrome
        Tricho-dento-osseous syndrome
        Trichodental syndrome
        Trichodermodysplasia-dental alterations syndrome
        Trichodysplasia-amelogenesis imperfecta syndrome
        Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
        Trichoodontoonychial dysplasia
        Trichothiodystrophy
        Trichothiodystrophy 1, photosensitive
        Trichothiodystrophy 2, photosensitive
        Trichothiodystrophy 3, photosensitive
        Trichothiodystrophy 4, nonphotosensitive
        Trichothiodystrophy 7, nonphotosensitive
        Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome
        Woolly hair-skin fragility syndrome
        Ehlers-Danlos syndrome
        Arthrochalasia Ehlers-Danlos syndrome
        Bethlem myopathy 2
        Brittle cornea syndrome
        Brittle cornea syndrome 1
        Brittle cornea syndrome 2
        Ehlers-Danlos syndrome due to tenascin-X deficiency
        Ehlers-Danlos syndrome progeroid type
        Ehlers-Danlos syndrome, spondylocheirodysplastic type
        Ehlers-Danlos syndrome, spondylodysplastic type, 1
        Ehlers-Danlos syndrome, spondylodysplastic type, 2
        Ehlers-Danlos syndrome, arthrochalasia type
        Ehlers-Danlos syndrome type 7A
        Ehlers-Danlos syndrome type 7B
        Ehlers-Danlos syndrome, dermatosparaxis type
        Ehlers-Danlos syndrome, cardiac valvular type
        Ehlers-Danlos syndrome, classic type
        Ehlers-Danlos syndrome, classic type, 1
        Ehlers-Danlos syndrome, classic type, 2
        Ehlers-Danlos syndrome, classic-like, 2
        Ehlers-Danlos syndrome, kyphoscoliotic type 1
        Ehlers-Danlos syndrome, musculocontractural type
        Ehlers-Danlos syndrome, periodontitis type
        Ehlers-Danlos syndrome, periodontal type 1
        Ehlers-Danlos syndrome, periodontal type 2
        Ehlers-Danlos syndrome, type 3
        Ehlers-Danlos syndrome, type 4
        Autosomal recessive Ehlers-Danlos syndrome, vascular type
        Ehlers-Danlos syndrome, dominant type 4
        Kyphoscoliotic Ehlers-Danlos syndrome
        Ehlers-Danlos syndrome, kyphoscoliotic type, 2
        Spondylodysplastic Ehlers-Danlos syndrome
        X-linked Ehlers-Danlos syndrome
        Epidermolysis bullosa
        Acquired epidermolysis bullosa
        Epidermolysis bullosa dystrophica
        Epidermolysis bullosa pruriginosa
        Generalized dominant dystrophic epidermolysis bullosa
        Localized dystrophic epidermolysis bullosa
        Recessive dystrophic epidermolysis bullosa
        Recessive dystrophic epidermolysis bullosa inversa
        Recessive dystrophic epidermolysis bullosa-generalized other
        Transient bullous dermolysis of the newborn
        Epidermolysis bullosa simplex
        Epidermolysis bullosa simplex 1A, generalized severe
        Epidermolysis bullosa simplex 1C, localized
        Epidermolysis bullosa simplex with mottled pigmentation
        Epidermolysis bullosa simplex, Koebner type
        Junctional epidermolysis bullosa
        Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
        Epidermolysis Bullosa, Junctional, with Pyloric Atresia
        Generalized junctional epidermolysis bullosa non-Herlitz type
        Junctional epidermolysis bullosa gravis of Herlitz
        Junctional epidermolysis bullosa inversa
        Junctional epidermolysis bullosa with pyloric atresia
        Junctional epidermolysis bullosa, non-Herlitz type
        Laryngo-onycho-cutaneous syndrome
        Late-onset junctional epidermolysis bullosa
        Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
        Localized junctional epidermolysis bullosa, non-Herlitz type
        Genodermatosis
        Albinism
        Chédiak-Higashi syndrome
        Ocular albinism
        Ocular albinism, type I
        Oculocutaneous albinism
        Piebaldism
        Atopic eczema
        Dermatitis, atopic
        Dermatitis, atopic, 2
        Dermatitis, atopic, 3
        Dermatitis, atopic, 4
        Dermatitis, atopic, 5
        Dermatitis, atopic, 6
        Dermatitis, atopic, 7
        Dermatitis, atopic, 8
        Dermatitis, atopic, 9
        Late onset atopic dermatitis
        Beaded hair
        Congenital ichthyosiform erythroderma
        Congenital nonbullous ichthyosiform erythroderma
        Epidermolytic ichthyosis
        Ichthyosis linearis circumflexa
        Cutaneous porphyria
        Cutis laxa
        Arterial tortuosity syndrome
        Autosomal recessive cutis laxa type 1
        Craniofaciofrontodigital syndrome
        Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
        Cutis laxa, autosomal dominant
        Cutis laxa, X-linked
        de Barsy syndrome
        Geroderma osteodysplastica
        Lethal arteriopathy syndrome due to fibulin-4 deficiency
        Redundant skin
        RIN2 syndrome
        SCARF syndrome
        Erythrokeratodermia variabilis
        Familial benign pemphigus
        Hepatic porphyria
        Acute intermittent porphyria
        Erythropoietic protoporphyria
        Hepatoerythropoietic porphyria
        Hereditary coproporphyria
        Porphobilinogen synthase deficiency
        Porphyria cutanea tarda
        Variegate porphyria
        Hereditary periodic fever syndrome
        Behcet disease
        CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
        Cryopyrin associated periodic syndrome
        Deficiency of mevalonate kinase
        Familial cold autoinflammatory syndrome 2
        Familial cold autoinflammatory syndrome 4
        Familial Mediterranean fever
        Infantile-onset periodic fever-panniculitis-dermatosis syndrome
        Periodic fever-infantile enterocolitis-autoinflammatory syndrome
        TNF receptor-associated periodic fever syndrome (TRAPS)
        Ichthyosis
        Acquired ichthyosis
        Autosomal recessive congenital ichthyosis 2
        Generalized ichthyosis
        Harlequin fetus
        Ichthyosis bullosa of Siemens
        Ichthyosis follicularis
        Ichthyosis vulgaris
        Palmoplantar keratoderma, epidermolytic
        Postnatal-onset ichthyosiform erythroderma
        Sjögren-Larsson syndrome
        X-linked ichthyosis with steryl-sulfatase deficiency
        Juvenile hyaline fibromatosis
        Keratosis follicularis
        Lipid proteinosis
        Muir-Torré syndrome
        Palmoplantar keratoderma
        Diffuse palmoplantar hyperkeratosis
        Porokeratosis
        Disseminated superficial actinic porokeratosis
        Porokeratosis of Mantoux
        Porokeratosis of Mibelli
        Prolidase deficiency
        Pseudoxanthoma elasticum
        Acquired pseudoxanthoma elasticum
        Autosomal recessive inherited pseudoxanthoma elasticum
        Inherited pseudoxanthoma elasticum
        Rothmund-Thomson syndrome
        Rothmund-Thomson syndrome type 1
        Rothmund-Thomson syndrome type 2
        White sponge nevus
        Xeroderma pigmentosum
        ERCC1-Related Xeroderma Pigmentosum
        Xeroderma pigmentosum group A
        Xeroderma pigmentosum group B
        Xeroderma pigmentosum variant type
        Xeroderma pigmentosum, group C
        Xeroderma pigmentosum, group D
        Xeroderma pigmentosum, group E
        Xeroderma pigmentosum, group F
        Xeroderma pigmentosum, group G
        Nevus flammeus
        Naevus flammeus of the eyelid
        Nevus flammeus nuchae
        Nevus flammeus of the forehead
        Sclerema neonatorum

Professional guidelines

PubMed

Keratosis pilaris: an update and approach to management.

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753

Lyme borreliosis: diagnosis and management.

Kullberg BJ, Vrijmoeth HD, van de Schoor F, Hovius JW
BMJ 2020 May 26;369:m1041. doi: 10.1136/bmj.m1041. PMID: 32457042

Clinical Practice Guideline for the Management of Infantile Hemangiomas.

Krowchuk DP, Frieden IJ, Mancini AJ, Darrow DH, Blei F, Greene AK, Annam A, Baker CN, Frommelt PC, Hodak A, Pate BM, Pelletier JL, Sandrock D, Weinberg ST, Whelan MA; SUBCOMMITTEE ON THE MANAGEMENT OF INFANTILE HEMANGIOMAS
Pediatrics 2019 Jan;143(1) doi: 10.1542/peds.2018-3475. PMID: 30584062

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Recent clinical studies

Etiology

Pediatric joint hypermobility: a diagnostic framework and narrative review.

Tofts LJ, Simmonds J, Schwartz SB, Richheimer RM, O'Connor C, Elias E, Engelbert R, Cleary K, Tinkle BT, Kline AD, Hakim AJ, van Rossum MAJ, Pacey V
Orphanet J Rare Dis 2023 May 4;18(1):104. doi: 10.1186/s13023-023-02717-2. PMID: 37143135 Free PMC Article

Epidermolysis Bullosa: Pediatric Perspectives.

Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913

Investigational Treatments for Epidermolysis Bullosa.

Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508

Epidermolysis bullosa.

Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163

Inherited ichthyosis: Non-syndromic forms.

Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

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Diagnosis

Enhancement of stratum corneum lipid structure improves skin barrier function and protects against irritation in adults with dry, eczema-prone skin.

Danby SG, Andrew PV, Kay LJ, Pinnock A, Chittock J, Brown K, Williams SF, Cork MJ
Br J Dermatol 2022 May;186(5):875-886. Epub 2022 Apr 3 doi: 10.1111/bjd.20955. PMID: 34921679 Free PMC Article

Hemangioma-related syndromes.

Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048

Familial Dyskeratotic Comedones.

Prabha N, Chhabra N, Kulkarni S, Hussain N
Skinmed 2018;16(4):273-274. Epub 2018 Jul 1 PMID: 30207533

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

Schimmelpenning syndrome.

Resende C, Araújo C, Vieira AP, Ventura F, Brito C
Dermatol Online J 2013 Oct 16;19(10):20026. PMID: 24139367

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Therapy

Acrodermatitis Enteropathica.

Zhao M, Shen C
N Engl J Med 2023 Nov 9;389(19):1803. Epub 2023 Nov 4 doi: 10.1056/NEJMicm2304003. PMID: 37929839

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS
Arch Dermatol Res 2023 Mar;315(2):305-315. Epub 2022 Feb 26 doi: 10.1007/s00403-022-02325-3. PMID: 35218370 Free PMC Article

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866 Free PMC Article

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.

Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP
Nat Med 2022 Apr;28(4):780-788. Epub 2022 Mar 28 doi: 10.1038/s41591-022-01737-y. PMID: 35347281 Free PMC Article

The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.

Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):158-167. doi: 10.1002/ajmg.c.31545. PMID: 28306230

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Prognosis

Epidermolysis bullosa.

Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138

Epidermolysis bullosa with congenital absence of skin: Review of the literature.

Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E
Pediatr Dermatol 2020 Sep;37(5):821-826. Epub 2020 Jul 20 doi: 10.1111/pde.14245. PMID: 32686866

Yunis-Varon Syndrome.

Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135

Sacral dimples.

Zywicke HA, Rozzelle CJ
Pediatr Rev 2011 Mar;32(3):109-13; quiz 114, 151. doi: 10.1542/pir.32-3-109. PMID: 21364014

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Clinical prediction guides

Pediatric joint hypermobility: a diagnostic framework and narrative review.

Ichthyosis.

Gutiérrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hernández-Martín A, González-Sarmiento R
Nat Rev Dis Primers 2023 Jan 19;9(1):2. doi: 10.1038/s41572-022-00412-3. PMID: 36658199

Enhancement of stratum corneum lipid structure improves skin barrier function and protects against irritation in adults with dry, eczema-prone skin.

Danby SG, Andrew PV, Kay LJ, Pinnock A, Chittock J, Brown K, Williams SF, Cork MJ
Br J Dermatol 2022 May;186(5):875-886. Epub 2022 Apr 3 doi: 10.1111/bjd.20955. PMID: 34921679 Free PMC Article

Epidermolysis Bullosa: Pediatric Perspectives.

Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913

The Beighton Score as a measure of generalised joint hypermobility.

Malek S, Reinhold EJ, Pearce GS
Rheumatol Int 2021 Oct;41(10):1707-1716. Epub 2021 Mar 18 doi: 10.1007/s00296-021-04832-4. PMID: 33738549 Free PMC Article

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Recent systematic reviews

Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.

Thwaites PA, Gibson PR, Burgell RE
J Gastroenterol Hepatol 2022 Sep;37(9):1693-1709. Epub 2022 Jul 20 doi: 10.1111/jgh.15927. PMID: 35750466 Free PMC Article

A Systematic Review of the Progression of Cutaneous Lupus to Systemic Lupus Erythematosus.

Curtiss P, Walker AM, Chong BF
Front Immunol 2022;13:866319. Epub 2022 Mar 11 doi: 10.3389/fimmu.2022.866319. PMID: 35359921 Free PMC Article

Treatment of keratosis pilaris and its variants: a systematic review.

Maghfour J, Ly S, Haidari W, Taylor SL, Feldman SR
J Dermatolog Treat 2022 May;33(3):1231-1242. Epub 2020 Sep 14 doi: 10.1080/09546634.2020.1818678. PMID: 32886029

Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.

Reychler G, De Backer MM, Piraux E, Poncin W, Caty G
Am J Med Genet A 2021 Oct;185(10):2986-2994. Epub 2021 Jun 19 doi: 10.1002/ajmg.a.62393. PMID: 34145717

Rhupus: a systematic literature review.

Antonini L, Le Mauff B, Marcelli C, Aouba A, de Boysson H
Autoimmun Rev 2020 Sep;19(9):102612. Epub 2020 Jul 12 doi: 10.1016/j.autrev.2020.102612. PMID: 32668290

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MedGen

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