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Genodermatosis

MedGen UID:: 20779
•Concept ID:: C0037277
•: Disease or Syndrome

Synonyms:	Disease, Genetic Skin; Diseases, Genetic Skin; Genetic Skin Disease; Genetic Skin Diseases; Skin Disease, Genetic; Skin Diseases, Genetic
SNOMED CT:	Genodermatosis (239001006)

Definition

A group of inherited skin disorders that present with multisystem involvement. It includes ichthyosis, epidermolysis bullosa, ectodermal dysplasia, cutis laxa, progeroid conditions, xeroderma pigmentosum, Rothmund Thomson syndrome, and dyskeratosis congenita. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGenodermatosis

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of skin
        Genodermatosis
        Albinism
        Chédiak-Higashi syndrome
        Aleutian disease
        Ocular albinism
        Ocular albinism with late-onset sensorineural deafness
        Ocular albinism, type I
        Oculocutaneous albinism
        Hermansky-Pudlak syndrome
        Oculocutaneous albinism type 1
        Oculocutaneous albinism type 3
        Oculocutaneous albinism type 4
        Oculocutaneous albinism type 5
        Oculocutaneous albinism type 6
        Oculocutaneous albinism type 7
        Oculocutaneous albinism type 8
        Tyrosinase-negative oculocutaneous albinism
        Tyrosinase-positive 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
        Epidermolytic hyperkeratosis 1
        Epidermolytic hyperkeratosis 2A, autosomal dominant
        Epidermolytic hyperkeratosis 2B, autosomal recessive
        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, autosomal dominant 1
        Cutis laxa, autosomal dominant 2
        Cutis laxa, autosomal dominant 3
        Cutis laxa, X-linked
        de Barsy syndrome
        ALDH18A1-related de Barsy syndrome
        PYCR1-related de Barsy syndrome
        Geroderma osteodysplastica
        Lethal arteriopathy syndrome due to fibulin-4 deficiency
        Redundant skin
        Redundant skin in infancy
        Redundant skin on fingers
        RIN2 syndrome
        SCARF syndrome
        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
        Erythrokeratodermia variabilis
        Familial benign pemphigus
        Hepatic porphyria
        Acute intermittent porphyria
        Erythropoietic protoporphyria
        Hepatoerythropoietic porphyria
        Hereditary coproporphyria
        Porphobilinogen synthase deficiency
        Porphyria cutanea tarda
        Familial porphyria cutanea tarda
        Sporadic porphyria cutanea tarda
        Variegate porphyria
        Hereditary periodic fever syndrome
        Behcet disease
        CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
        Cryopyrin associated periodic syndrome
        Chronic infantile neurological, cutaneous and articular syndrome
        F12-associated cold autoinflammatory syndrome
        Familial amyloid nephropathy with urticaria AND deafness
        Familial cold autoinflammatory syndrome
        Deficiency of mevalonate kinase
        Hyperimmunoglobulin D with periodic fever
        Mevalonic aciduria
        Familial cold autoinflammatory syndrome 2
        Familial cold autoinflammatory syndrome 4
        Familial Mediterranean fever
        Autosomal recessive familial Mediterranean fever
        Familial Mediterranean fever, autosomal dominant
        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
        Epidermolytic palmoplantar keratoderma, 1
        Palmoplantar keratoderma, epidermolytic, 2
        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
        Diffuse palmoplantar keratoderma of Thost-Unna
        Palmoplantar keratoderma with leukoplakia
        Type A Tylosis
        Type B Tylosis
        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
        Pseudoxanthoma elasticum, forme fruste
        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
        Cockayne syndrome type 3
        Xeroderma pigmentosum variant type
        Xeroderma pigmentosum, group C
        Xeroderma pigmentosum, group D
        Xeroderma pigmentosum, group E
        Xeroderma pigmentosum, group F
        Xeroderma pigmentosum, group G

Professional guidelines

PubMed

Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.

Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914 Free PMC Article

Update in the Management of Basal Cell Carcinoma.

Basset-Seguin N, Herms F
Acta Derm Venereol 2020 Jun 3;100(11):adv00140. doi: 10.2340/00015555-3495. PMID: 32346750 Free PMC Article

Epidermolysis bullosa in France: management in the National Reference Center for Genodermatosis.

Bodemer C; MAGEC-Necker Team
Dermatol Clin 2010 Apr;28(2):401-3, xiv. doi: 10.1016/j.det.2010.02.007. PMID: 20447513

See all (38)

Recent clinical studies

Etiology

Muir-Torre syndrome.

Bhaijee F, Brown AS
Arch Pathol Lab Med 2014 Dec;138(12):1685-9. doi: 10.5858/arpa.2013-0301-RS. PMID: 25427047

Epidermodysplasia verruciformis.

Burger B, Itin PH
Curr Probl Dermatol 2014;45:123-31. Epub 2014 Mar 17 doi: 10.1159/000356068. PMID: 24643182

Neonatal erythroderma.

Fraitag S, Bodemer C
Curr Opin Pediatr 2010 Aug;22(4):438-44. doi: 10.1097/MOP.0b013e32833bc396. PMID: 20616730

Gardner's syndrome.

Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

Incontinentia pigmenti.

Cohen BA
Neurol Clin 1987 Aug;5(3):361-77. PMID: 3306331

See all (320)

Diagnosis

Dyschromatosis Universalis Hereditaria.

Bista M , Agrawal S , Agrawal Y
Kathmandu Univ Med J (KUMJ) 2021 Jan.-Mar;19(73):146-147. PMID: 34812175

Dowling-Degos disease: a review.

Stephan C, Kurban M, Abbas O
Int J Dermatol 2021 Aug;60(8):944-950. Epub 2020 Dec 23 doi: 10.1111/ijd.15385. PMID: 33368260

Emerging therapies in genodermatoses.

Silverberg N
Clin Dermatol 2020 Jul-Aug;38(4):462-466. Epub 2020 Mar 24 doi: 10.1016/j.clindermatol.2020.03.006. PMID: 32972604

Incontinentia Pigmenti.

Cammarata-Scalisi F, Fusco F, Ursini MV
Actas Dermosifiliogr (Engl Ed) 2019 May;110(4):273-278. Epub 2019 Jan 17 doi: 10.1016/j.ad.2018.10.004. PMID: 30660327

Dyskeratosis congenita.

Drachtman RA, Alter BP
Dermatol Clin 1995 Jan;13(1):33-9. PMID: 7712648

See all (571)

Therapy

Efficacy of alitretinoin in the treatment of Darier disease: a case report.

Pagon A, Dolenc Voljč M
Acta Dermatovenerol Alp Pannonica Adriat 2023 Dec;32(4):191-195. PMID: 38126103

Emerging therapies in genodermatoses.

Silverberg N
Clin Dermatol 2020 Jul-Aug;38(4):462-466. Epub 2020 Mar 24 doi: 10.1016/j.clindermatol.2020.03.006. PMID: 32972604

Hailey-Hailey disease and review of management.

Chiaravalloti A, Payette M
J Drugs Dermatol 2014 Oct;13(10):1254-7. PMID: 25607561

X-linked ichthyosis: an oculocutaneous genodermatosis.

Fernandes NF, Janniger CK, Schwartz RA
J Am Acad Dermatol 2010 Mar;62(3):480-5. Epub 2010 Jan 18 doi: 10.1016/j.jaad.2009.04.028. PMID: 20080321

Acquired epidermodysplasia verruciformis.

Rogers HD, Macgregor JL, Nord KM, Tyring S, Rady P, Engler DE, Grossman ME
J Am Acad Dermatol 2009 Feb;60(2):315-20. doi: 10.1016/j.jaad.2008.08.035. PMID: 19150275

See all (145)

Prognosis

Cutaneous Expression of Familial Cancer Syndromes.

Andersen AJ, Schierbeck J, Bygum A, Puente-Pablo N
Acta Derm Venereol 2021 Jul 30;101(7):adv00505. doi: 10.2340/00015555-3852. PMID: 34159396 Free PMC Article

Update in the Management of Basal Cell Carcinoma.

Basset-Seguin N, Herms F
Acta Derm Venereol 2020 Jun 3;100(11):adv00140. doi: 10.2340/00015555-3495. PMID: 32346750 Free PMC Article

Neonatal erythroderma.

Fraitag S, Bodemer C
Curr Opin Pediatr 2010 Aug;22(4):438-44. doi: 10.1097/MOP.0b013e32833bc396. PMID: 20616730

Lethal acantholytic epidermolysis bullosa.

McGrath JA, Bolling MC, Jonkman MF
Dermatol Clin 2010 Jan;28(1):131-5. doi: 10.1016/j.det.2009.10.015. PMID: 19945626

Gardner's syndrome.

Perniciaro C
Dermatol Clin 1995 Jan;13(1):51-6. PMID: 7712650

See all (184)

Clinical prediction guides

Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4.

Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761

A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.

de Oliveira ASLE, de Siqueira RC, Nait-Meddour C, Tricarico PM, Moura R, Agrelli A, d'Adamo AP, Jamain S, Crovella S, de Fátima Medeiros Brito M, Boniotto M, Brandão LAC
Exp Dermatol 2023 Nov;32(11):1935-1945. Epub 2023 Sep 4 doi: 10.1111/exd.14919. PMID: 37665193

Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms.

Tong Y, Schneider JA, Coda AB, Hata TR, Cohen PR
Am J Clin Dermatol 2018 Feb;19(1):87-101. doi: 10.1007/s40257-017-0307-8. PMID: 28695430

Birt-Hogg-Dubé syndrome.

Lencastre A, Ponte P, Apetato M, Nunes L, Lestre S
An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):203-5. doi: 10.1590/abd1806-4841.20132199. PMID: 24346920 Free PMC Article

X-linked ichthyosis: an oculocutaneous genodermatosis.

Fernandes NF, Janniger CK, Schwartz RA
J Am Acad Dermatol 2010 Mar;62(3):480-5. Epub 2010 Jan 18 doi: 10.1016/j.jaad.2009.04.028. PMID: 20080321

See all (222)

Recent systematic reviews

Acquired epidermodysplasia verruciformis syndrome in HIV-infected patients: a systematic review.

Cuestas D, Gómez A, Neri Morales C, Motta A, Rolon M, Suarez S, Polo R
Arch Dermatol Res 2024 Jul 13;316(7):471. doi: 10.1007/s00403-024-03016-x. PMID: 39001899 Free PMC Article

(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature.

Tosto V, Herrero B, Illescas T, De la Calle Fernandez-Miranda M, Moreno-Sanz B, de Lucas R, Bartha JL, Antolin E
Eur J Obstet Gynecol Reprod Biol 2023 Nov;290:43-50. Epub 2023 Aug 24 doi: 10.1016/j.ejogrb.2023.08.379. PMID: 37717401

Dupilumab in the treatment of genodermatosis: A systematic review.

Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040

Therapeutics of xeroderma pigmentosum: A PRISMA-compliant systematic review.

de Andrade FAG, Cavalcanti CEO, Isoldi FC, Ferreira LM
Indian J Dermatol Venereol Leprol 2021 Mar-Apr;87(2):176-189. doi: 10.25259/IJDVL_431_19. PMID: 33769755

Dental and oral anomalies in incontinentia pigmenti: a systematic review.

Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M
Clin Oral Investig 2013 Jan;17(1):1-8. Epub 2012 Mar 28 doi: 10.1007/s00784-012-0721-5. PMID: 22453515

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MedGen

National Center for Biotechnology Information