Atlas of Genodermatoses

Cover
Half Title
Title Page
Copyright Page
CONTENTS
Foreword
Preface
Acknowledgements
List of Contributors
Illustration Credits
1. Epidermolysis Bullosae
	Definition
	Epidemiology
	Epidermolytic epidermolysis bullosa (EEB)
	Junctional epidermolysis bullosa (JEB)
	Dermolytic epidermolysis bullosa (DEB)
	Kindler syndrome
2. Acantholytic Diseases
	Darier disease
	Hailey-Hailey disease
3. Ichthyoses
	Non-syndromic ichthyoses
	Autosomal dominant congenital ichthyoses
	Autosomal recessive congenital ichthyoses (ARCI)
	Keratinopathic ichthyoses
	Loricrin keratoderma
	Klick syndrome
	Erythrokeratoderma variabilis et progressiva (EKVP)
	Pityriasis rotunda
	Ichthyosis cribriformis
	Peeling skin syndromes (PSS)
	PLACK syndrome
	Keratolytic winter erythema
	Syndromic ichthyoses
	Syndromic X-linked ichthyosis
	Netherton syndrome
	SAM syndrome
	ErythroKeratoderma Cardiomyopathy (EKC) syndrome
	Neonatal inflammatory skin and bowel disease type 1 (NISBD1)
	EGFR-related Ichthyosis
	Sjögren-Larsson syndrome
	Refsum disease
	Trichothiodystrophy (TTD)
	Ichthyosis follicularis with atrichia and photophobia (IFAP)/keratosis follicularis spinulosa decalvans (KFSD)
	BRESEK/BRESHECK syndrome
	X-linked dominant chondrodysplasia punctata
	KID syndrome
	Ichthyosis hypotrichosis syndrome (IHS)
	Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome (IHSC)
	MEDNIK syndrome
	Keratitis-ichthyosis-deafness autosomal recessive (KIDAR)
	Gaucher disease type II
	Multiple sulfatase deficiency (MSD)
	CEDNIK syndrome
	Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
	Autosomal recessive keratoderma, ichthyosis and deafness (ARKID) syndrome
	Dorfman-Chanarin syndrome
	Ichthyosis prematurity syndrome
	Neu-Laxova syndrome
	UDP-glucose ceramide glucosyltransferase associated collodion baby
	Cutaneous ceramidopathies
	KDSR-related phenotypes
	Ferro-cerebro-cutaneous syndrome
	Congenital disorders of glycosylation associated with ichthyosis
	Sphingosine lyase insufficiency syndrome (SPLIS)
4. Palmoplantar Keratodermas
	Definition
	Diffuse hereditary PPKs: no associated features
	Diffuse hereditary PPKs: with associated features
	Focal hereditary PPKs: no associated features
	Focal hereditary PPKs: with associated features
	Papular hereditary PPK: no associated features
	Papular hereditary PPKs: with associated features
	Pachydermoperiostosis
	PPK congenital alopecia syndrome
	Keratin 16-related PPK
5. Other Disorders of Keratinization
	Kyrle’s disease
	Autoinflammatory keratinization diseases (AiKDs)
6. Poikilodermas and Aging Syndromes
	Xeroderma pigmentosum (XP)
	Clericuzio-type poikiloderma with neutropaenia
	Kindler syndrome
	Bloom syndrome
	Rothmund-Thomson syndrome
	Dyskeratosis congenita (DC)
	Hereditary sclerosing poikiloderma
	POIKTMP syndrome
	LIPHAK syndrome (LTV1-associated inflammatory poikiloderma with hair abnormalities and acral keratoses)
	Trichothiodystrophy syndrome (TTD)
	Aging syndromes
	Werner syndrome
	Cockayne syndrome
	Acrogeria
	Kitamura disease
	Dowling-Degos disease
	Laminopathies
	Hutchinson-Gilford syndrome
	Restrictive dermopathy
	Atypical progeroid syndromes (APSs)
7. Hair Diseases
	Non-syndromic forms of congenital hypotrichosis
	Syndromic forms of congenital hypotrichosis
	Congenital hypertrichosis
	Cantu syndrome
	Cornelia de Lange syndrome
	Barber-Say syndrome
	Pili torti
	Pili annulati
	Menkes disease
	Trichothiodystrophy
	Silvery hair syndrome
	Loose anagen syndrome
	Alopecia areata
	Ulerythema ophryogenes
	Triangular alopecia
8. Nail Disorders
	Twenty nail dystrophy
	Pachyonychia congenita
	Nail-patella syndrome
	Iso-Kikuchi syndrome
	Leuconychia
	Yellow nail syndrome
	Witkop syndrome
	Pterygium inversum unguis
	Congenital malalignment of the great toenail
	DOORS syndrome
9. Neurocutaneous Syndromes
	Neurofibromatosis type 1 (NF1)
	Legius syndrome
	Noonan syndrome (NS)
	Cardiofaciocutaneous (CFC) syndrome
	Costello syndrome
	Mosaic RASopathies
	Schwannomatoses
	Neurofibromatosis type 2 related schwannomatosis
	LZTR1 and SMARCB1-related schwannomatosis
	Tuberous sclerosis (TS)
10. Epidermal Nevi and Epidermal Nevus Syndromes
	EN and related syndromes
	Phacomatosis pigmentokeratotica
	Phacomatosis Pigmento-Eccrina
	Waxy keratosis
	Papular EN with Skyline basal cell layer (PENS) nevus and related syndrome
	Porokeratotic eccrine ostial and dermal duct nevus (PEODDN)
	Nevoid follicular mucinosis
	CHILD syndrome
	White sponge hyperplasia of the mucosae
11. Ectodermal Dysplasias and Related Disorders
	Ectodermal dysplasias
	Hypohidrotic ED (HED)
	p63-related EDs
	Tricho-dento-osseous syndrome
	Witkop’s syndrome
	Ellis-Van Creveld-Weyers acrofacial dysostosis (EVC-WAD) complex
	Nectinopathies
	Further complex syndromes with ED signs
	Connexins-related syndromes
	Ectodermal dysplasia-skin fragility syndrome
	Pure hair-nail ectodermal dysplasia
	Trichorhinophalangeal syndrome
	Incontinentia pigmenti
	Naegeli–Franceschetti syndrome
	Focal dermal hypoplasia
	MIDAS syndrome
12. Disorders of Connective Tissue
	Ehlers-Danlos syndromes (EDSs)
	Classical EDS type (cEDS)
	Classical-like EDS type (clEDS)
	Cardiac-Valvular EDS (cvEDS)
	EDS Hypermobility type (hEDS)
	EDS vascular type (vEDS)
	EDS kyphoscoliotic type (kEDS)
	EDS arthrochalasia type (aEDS)
	EDS dermatosparaxis type (dEDS)
	EDS other rarer types
	Cutis laxa syndromes
	Autosomal dominant CL (ADCL)
	Autosomal recessive CL (ARCL)
	Geroderma osteodysplasticum (GO)
	MACS syndrome
	Pseudoxanthoma elasticum (PXE)
	Urbach-Wiethe disease
	Marfan syndrome (MFS)
	Loeys-Dietz syndrome (LDS)
	Arterial tortuosity syndrome (ATS)
	Stickler syndrome
	Connective tissue nevi
	Buschke-Ollendorff syndrome
	Melorheostosis
	Elastosis perforans serpiginosa
	Congenital symmetric circumferential skin creases (CSCSC)
	Hyaline fibromatosis syndrome
	Cutaneous mastocytosis
	Dermochondrocorneal dystrophy
	GNAS-related syndromes: Osteoma (osteomatosis) cutis (OC), progressive osseous heteroplasia (POH) and Albright’s hereditary osteodystrophy (AHO)
	Cutis verticis gyrata (CVG)
	Atrophoderma of Moulin
13. Fatty Tissue Anomalies
	Launois-Bensaude syndrome
	Congenital generalized lipodystrophy (CGL)
	Partial lipodystrophy
	Lipomas, familial multiple lipomatosis and nevus lipomatosus
	Sebocystomatosis
14. Aplasia Cutis
15. Disorders of Pigmentation
	Oculocutaneous albinisms
	X-Linked ocular albinism
	Cross syndrome
	Hermansky-Pudlak syndrome (HPS)
	Pigmentary mosaicism (PM)
	Syndromic pigmentary mosaicism
	TFE3-related Pigmentary Mosaicism
	Borjeson-Forssman-Lehmann syndrome
	RHOA-related pigmentary mosaicism
	TUBB3-related pigmentary mosaicism
	Familial progressive hyper-hypopigmentation
	Terminal osseous dysplasia with pigmentary defects
	mTOR-related syndromic pigmentary mosaicism
	Piebaldism
	Waardenburg syndrome
	McCune-Albright syndrome
	MELAS syndrome
	Melanocytic nevi and related syndromes
	Segmental lentiginosis
	OTA nevus
	Dermal melanocytosis (DM)
	Cutis tricolor
	Dyschromatosis symmetrica hereditaria
16. Vascular Disorders
	Fast-flow malformations
	Slow-flow malformations
	Cobb syndrome
	Other syndromes with prominent vascular signs
	von Hippel-Lindau syndrome
	Anemic nevus
	Angioma serpiginosum (AS)
	Cutis marmorata telangiectatica congenita
	Microcephaly–capillary malformation
	Phacomatosis pigmentovascularis
	Adams-Oliver syndrome
	Hereditary haemorrhagic telangiectasia (HHT)
	Maffucci syndrome
	Blue rubber bleb angioma syndrome
	Glomuvenous malformations
	Generalized essential telangiectasia
	Lymphatic malformations and lymphoedema syndromes
	Lymphatic malformations
	Net-like superficial lymphatic malformation
	Lymphoedema syndromes
	Primary intestinal lymphangiectasia
	Hypotrichosis-lymphoedema-telangiectasia syndrome (HLTS)
	Generalized cyanosis, phlebectases and soft skin syndrome
	Vascular tumours
	Haemangioma syndromes
	CADASIL
17. Metabolic Diseases
	Porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria (HEP)
	Erythropoietic protoporphyria (EPP)
	Congenital erythropoietic porphyria (CEP)
	Hereditary coproporphyria (HCP) and Harderoporphyria
	Variegate porphyria (VP)
	Acrodermatitis enteropathica
	Fabry disease
	Sea-blue histiocytosis
	Cerebrotendinous xanthomatosis
	Prolidase deficiency
	Methylmalonic aciduria
	Alkaptonuria
18. Complex Malformative Syndromes with Distinctive Cutaneous Signs
	Rubinstein–Taybi syndrome
	Cornelia de Lange syndrome (CdLS)
	KBG syndrome
	Coffin–Siris syndrome
	Orofaciodigital syndromes (OFDS)
	Branchio-oculo-facial (BOF) syndrome
	Barber–Say syndrome
	Turner syndrome
	Down syndrome (trisomy 21)
	Pallister–Killian syndrome
	Encephalocraniocutaneous lipomatosis (ECCL)
	Growth retardation, alopecia, pseudoanodontia and optical atrophy (GAPO) syndrome
	Cantu syndrome
	Zimmermann–Laband syndrome (ZLS)
	Woodhouse–Sakati syndrome
	Apert syndrome
	H Syndrome
	Poland syndrome
	Kabuki syndrome
	Congenital insensitivity to pain (CIP)
	Primary cutaneous amyloidosis
	Frank–Ter Haar–Borrone syndrome
	Familial comedones
	Triple A syndrome
	Gómez–Lopez–Hernández syndrome
	Axenfeld-Rieger syndrome
19. Immunodeficiency Disorders
	Primary immunodeficiency syndromes
	Ataxia–telangiectasia
	Chediak-Higashi syndrome
	Cartilage-hair hypoplasia
	Chronic granulomatous disease
	Chronic mucocutaneous candidiasis
	APECED syndrome
	Hyper-IgE syndromes
	Hereditary Angioedema
	Omenn syndrome-severe combined immunodeficiencies
	Common variable immunodeficiency
	Wiskott-Aldrich syndrome
	Immunoglobulin deficiencies
	Cyclic neutropenia
	Leukocyte adhesion deficiencies
	DiGeorge syndrome
	Fanconi anaemia
20. Autoinflammatory Diseases
	Interferonopathies
	SAVI syndrome
	Familial chilblain lupus/Aicardi-Goutières complex
	X-Linked reticulate pigmentary disorder with systemic manifestations (XLRPD)
	Other rarer interferonopathies
	Monogenic autoinflammatory diseases
	CARD14 gene-related diseases
	APLAID syndrome
	NLRC4-related autoinflammatory disorder
	VEXAS syndrome
	Familial keratosis lichenoides chronica
	EGFR-related autoinflammatory syndrome
21. Overgrowth Syndromes
	PIK3CA-related syndromes (PROS)
	Proteus syndrome
	Beckwith-Wiedemann syndrome (BWS)
22. Genodermatoses Related to Malignancy
	Basal cell carcinoma syndrome (BCCS)
	Bazex-Dupré-Christol syndrome
	Rombo syndrome
	Constitutional mismatch repair deficiency syndromes
	Gardner syndrome
	Peutz-Jeghers syndrome
	PTEN-opathies
	Howel–Evans syndrome
	Cutaneous leiomyomatosis
	Multiple endocrine neoplasia (MEN) syndrome type 2B
	Carney complex
	Birt-Hogg-Dubé syndrome
	Cyld cutaneous syndrome
	Bloom syndrome
	Epidermodysplasia verruciformis (EV)
	Hereditary progressive mucinous histiocytosis
23. Cutaneous Mosaicism
	Definition and introduction
	Patterns of clinical manifestation of skin mosaicism
	Dydymosis twin spots
	Mechanisms of inheritance of mosaicism
24. Genodermatoses in Dark Skin
25. Dermoscopy in Genodermatoses
Index