Sarah's Derm Boards- Genodermatoses

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Gene- X-linked ichthyosis: STS Xp22.32
Aryl Sulfatase C (inhibits proteolysis)
X linked recessive
Gene- Ichthyosis vulgaris: Profillagrin (decreased shedding of corneocytes)
Autosomal dominant
Gene- Epidermolytic hyperkeratosis (bullous CIE): Keratin 1, 10
Autosomal dominant
Gene- Bullous ichthyosis of Siemens: Keratin 2e
Autosomal dominant
Gene- White sponge nevus: Keratin 4, 13
Autosomal dominant
Gene- lamellar ichthyosis: TGM1
Transglutaminase (crosslinks cornified envelope)
Autosomal recessive
Gene- Congenital ichthyosiform erythroderma (nonbullous CIE): 1. TGM1 (transglutaminase)
2. ALOXE3 (lipooxygenase 3)
3. ALOX1213 (1213 lipooxygenase)
4. ABC-A12 (ATP binding cassette transporter 12)
Autosomal recessive
Gene- Harlequin ichthyosis: Unknown (on 18q21)
Autosomal recessive
Gene- Netherton syndrome: SPINK5
LEKT1 (serine protease inhibitor)
Autosomal recessive
Gene- Sjogren-Larsson syndrome: FALDH
Fatty aldehyde dehydrogenase
Autosomal recessive
Gene- Refsum syndrome: 1. PHYH (AKA PAHX) (Phytanoyl Co-A hydroxylase)
2. PEX7 (Peroxin 7 receptor)
Autosomal recessive
Gene- Keratitis-Ichthyosis-Deafness (KID) syndrome: GJB2
Connexin 26
Autosomal recessive or dominant
Gene- Conradi-Hunderman-Happle syndrome (Chondrodysplasia punctata): 1. EBP (emopamil binding protein)-X-linked dominant
2. ARSE (aryl sulfatase E)- X-linked recessive
3. PEX7 (peroxin 7 receptor)- Autosomal recessive
Gene- CHILD syndrome (Congenital hemidysplasia with ichthyosiform erythroderma and limb defects): 1. NSDHL (33 hydroxysteroid dehydrogenase)
2. EBP (Emopril binding protein)
X-linked dominant
Gene- Erythrokeratoderma variabilis (Mendes da Costa syndrome): GJB3, GJB4
Connexins 31, 30.3
Autosomal dominant
Gene- Darier-White (Keratosis follicularis): SERCA2 (ATP2A2)
ER Ca ATPase
Autosomal dominant
Gene- Hailey-Hailey disease: ATP2C1
Golgo Ca ATPase
Autosomal dominant
Gene- Chanarin-Dorfman (Neutral lipid storage disease): CG158
Esterase family
Autosomal recessive
Gene- Vohlwinkel syndrome (PPK mutilans) (without deafness): LOR
Loricrin
Autosomal dominant
Gene- Vohlwinkel with deafness: GJB2
Connexin 26
Autosomal dominant
Gene- Papillon-Lefevre syndrome (PPK with periodontitis): CTSC
Cathepsin C (lysosomal protease)
Autosomal recessive
Gene- Striate PPK1: DSG1
Desmoglein 1
Autosomal dominant
Gene- Striate PPK2: DSP
Desmoplakin
Autosomal dominant
Gene- Vorner's syndrome (diffuse epidermolytic PPK): Keratin 9
Autosomal dominant
Gene- Unna-Thost (nonepidermolytic PPK): Keratin 1
Autosomal dominant
Gene- Mal de Meleda (keratoderma palmoplantaris transgradiens): SLURP1
Autosomal dominant
Gene- Howell-evans syndrome (focal PPK): TOC
Tylosis oesophageal cancer
Autosomal dominant
Gene- Pachyonychia congenita II (Jackson-Lawler): Keratin 17, 7
Autosomal dominant
Gene- Richner-Hanhart syndrome (oculo-cutaneous tyrosinemia type II): Tyrosine aminotransferase
Autosomal recessive
Gene- Epidermolysis bullosa simplex: Keratin 5, 14
Autosomal dominant
Gene- EBS with muscular dystrophy: PLEC1
Plectin
Autosomal recessive
Gene- Generalized atrophic benign EB (non-Herlitz): 1. COL17A1/BPAg2 (Collagen 17)
2. LAMB3 (Laminin)
Autosomal recessive
Gene- Junctional EB with pyloric atresia: ITGA6, ITBB3
Integrin alpha6beta4
Autosomal recessive
Gene- Junctional EB (Herlitz): LAMA3, LAMB3, LAMC2
Laminin 5
Autosomal recessive
Gene- Dystrophic EB: COL7A1
Collagen VII
Autosomal dominant or recessive
Gene- Oculocutaneous albinism type I: TYR
Tyrosinase
Autosomal recessive
Gene- Oculocutaneous albinism type II: P protein (defective melanosome transport)
Autosomal recessive
Gene- Rufous oculocutaneous albinism (type III): TYP1
Tyrosine related protein
Autosomal recessive
Gene- Hermansky-Pudlak: HSP1, HSP2
Beta3 subunit of AP3 (accumulation of ceroid lipofuscin in macrophages)
Autosomal recessive
Gene- Chediak-Higashi: LYST
Lysosomal transport protein
Autosomal recessive
Gene- Griscelli syndrome: MYO5a
Myosin 5a
Autosomal recessive
Gene- Waardenberg's syndrome: 1. PAX3 (types 1, 3)
2. MITF (type 2)
3. SOX10/EDN3 (type 4)
Autosomal dominant
Gene- Piebaldism: c-kit
Tyrosine kinase receptor c-kit
Autosomal dominant
Gene- LEOPARD syndrome: PTPN1
Tyrosine phosphatase SHP2
Autosomal dominant
Gene- McCune-Albright syndrome: GNAS-1
Stimulates G-protein
Paternally inherited
Gene- Neurofibromatosis I (von Recklinghausen): NF1
Neurofibromin
Autosomal dominant
Gene- Neurofibromatosis II: NF2
Schwannomin (Merlin)
Autosomal dominant
Gene- Tuberous sclerosis (epiloia): 1. TSC1 (hamartin)
2. TSC2 (tuberin)
Autosomal dominant
Gene- Incontinentia pigmenti (Bloch-Sulzberger): NEMO
NFkappaB activator
X-linked dominant
Gene- Bannayan-Riley-Ruvalcaba: PTEN
Tumor suppressor
Autosomal dominant
Gene- Cowden's syndrome: PTEN
Tumor suppressor
Autosomal dominant
Gene- Gardner's syndrome: APC
Adenomatosis polyposis coli tumor suppressor
Autosomal dominant
Gene- Basal cell nevus syndrome (Gorlin's): PTCH
Patched tumor suppressor
Autosomal dominant
Gene- Muir-Torre syndrome: MSH1, MSH2
DNA mismatch repair
Autosomal dominant
Gene- Birt-Hogg-Dube syndrome: BHD
Folliculin
Autosomal dominant
Gene- Carney complex (LAMB, NAME syndromes): PRKAR1A
Protein Kinase A regulatory protein tumor suppressor
Autosomal dominant
Gene- Peutz-Jeghers syndrome: STK11
Serine/threonine kinase 11 tumor suppressor
Autosomal dominant
Gene- Dyskeratosis congenita (Zinsser-Engman-Cole): 1. DKC1 (dyskeratin-RNA telomerase)
X-linked recessive
2. TERC (telomerase)
Autosomal dominant
Gene- Multiple endocrine neoplasia IIB: RET
RET protooncogene
Autosomal dominant
Gene- von Hippel Lindau: VHL
Tumor suppressor
Autosomal dominant
Gene- Xeroderma Pigmentosum: XPA-G
DNA repair enzymes
Autosomal recessive
Gene- Beckwith-Wiedemann syndrome: p57 (KIP2)
CDK inhibitor tumor suppressor
Sporadic
Gene- Bruton's agammaglobulinemia: BTK
Bruton's tyrosine kinase
X-linked recessive
Gene- Severe combined immunodeficiency: 1. Gamma chain of IL2-R
X-linked recessive
2. Adenosine deaminase
Autosomal recessive
3. JAK3
Autosomal recessive
Gene- Chronic granulomatous disease of childhood: CYBB
Cytochrome b558 (NADPH oxidase burst component)
X linked recessive (90%) or Autosomal recessive (10%)
Gene- Wiskott-Aldrich syndrome: WASP
Disrupts actin skeleton
X linked recessive
Gene- Buschke-Ollendorff syndrome: unknown
Autosomal dominant
Gene- Ehlers Danlos classical (I, II): 1. COL51A
Collagen 5
Autosomal dominant
2. TNX
Tenascin X
Autosomal recessive
Gene- Ehlers Danlos hypermobility (III): unknown
Autosomal dominant
Gene- Ehlers Danlos vascular (IV): COL3A1
Collagen III
Autosomal dominant
Gene- Ehlers Danlos kyphoscolosis (VI): PLOD
Lysyl hydroxylase
Autosomal recessive
Gene- Ehlers Danlos arthrochalasia: COL1A1, 1A2
Collagen 1
Autosomal dominant
Gene- Ehlers Danlos dermatosparaxis (VIIc): COL1A1-N-pep
Collagen 1
Autosomal recessive
Gene- Cutis laxa: 1. FBLN5
Fibulin 5
Autosomal recessive
2. Elastin
Autosomal dominant
3. ATP7A/MNK
X linked recessive
Gene- Goltz syndrome (focal dermal hypoplasia): unkown (Xp22.31)
X linked dominant
Gene- Lipoid proteinosis (Urbach-Wiethe): ECM1
Autosomal recessive
Gene- Marfan's syndrome: FBN1
Fibrillin
Autosomal dominant
Gene- Pseudoxanthoma elasticum: ABCC6
Multidrug resistant protein MRP6
Autosomal recessive > autosomal dominant
Gene- Osteogenesis imperfecta: COL1A1, 1A2
Collagen 1 alpha 1 and alpha 2 chains
Autosomal dominant, autosomal recessive
Gene- Werner's syndrome: WRN or RECQL2
DNA helicase
Autosomal recessive
Gene- Fabry's disease (Angiokeratoma corporis diffusum): Alphagalactosidase A
X linked recessive
Gene- Farber's disease (lipogranulomatosis): Acid ceramidase
Autosomal dominant
Gene- Gaucher's disease: Beta-glucocerebrosidase
Autosomal recessive
Gene- Hurler's syndrome (MPS I): Alpha-L-Iduronidase
Autosomal recessive
Gene- Hunter's syndrome (MPS II): Iduronate sulfatase
X linked recessive
Gene- Homocysteinuria: Cystathione synthetase
Autosomal recessive
Gene- Neimann-Pick: Sphingomyelinase
Autosomal recessive
Gene- Quinke's hereditary angioedema: C1 esterase inhibitor
Autosomal dominant
Gene- Ataxia-telangiectasia (Louis-Bar): ATM
DNA repair protein
Autosomal recessive
What tumors are associated with Cowden's syndrome?: Trichilemmoma
Breast cancer
Thyroid cancer
What tumors are associated with Bannayan-Riley-Ruvalcaba?: Trichilemmoma
What tumors are associated with Gardner's syndrome?: GI/Colon cancer
Osteomas
What tumors are associated with Gorlin's syndrome?: Medulloblastoma
Basal cell carcinoma
What tumors are associated with Muir-Torre?: Sebaceous adenoma
Keratoacanthoma
Colon cancer
Less common: GU, lung, breast, heme cancers
What tumors are associated with Birt-Hogg-Dube?: Fibrofolliculoma
Trichodiscoma
Renal cell cancer
Medullary cancer
Colon cancer
What tumors are associated with Carney complex?: Atrial myxoma
Testicular tumors
Psammomatous melanotic schwannomas
What tumors are associated with Peutz-Jeghers?: GI adenocarcinoma
Breast cancer
Ovarian cancer
Pancreatic cancer
What tumors are associated with MEN IIb?: Mucosal neuromas
Medullary thyroid cancer
Pheochromocytoma
What tumors are associated with von Hippel Lindau?: CNS, retinal hemagioblastomas
Pheochromocytoma
Adrenal cancer
Renal cell cancer
What tumors are associated with Beckwith-Wiedemann?: Wilms tumor
Renal medullary cyst
Hepatoblastoma
Adrenal cortical cancer
Rhabdomyosarcoma
What tumors are associated with Neurofibromatosis I?: Neurofibroma
Optic nerve glioma
What tumors are associated with Neurofibromatosis II?: Vestibular schwannoma
Astrocytoma
Meningioma
Neurofibroma
What tumors are associated with Tuberous sclerosis?: Adenoma sebaceum
Periungual fibroma
Renal angiomyolipoma
Heart rhabdomyoma
Pulmonary lymphangiomyomatosis
What tumors are associated with Howell-Evans (focal PPK)?: Oesophageal cancer
What ocular findings are associated with X-linked ichthyosis?: Comma shaped corneal opacities
What ocular findings are associated with Sjogren-Larsson syndrome?: "Glistening dots" retinitis pigmentosa
What ocular findings are associated with Refsum syndrome: "Salt and pepper" retinitis pigmentosis
Cataracts
Nystagmus
What ocular findings are associated with Richner-Hanhart (oculocutaneous tyrosinemia type II)?: Pseudoherpetic dendritic keratitis with corneal erosions (secondary to tyrosine crystals)- can lead to blindness
What ocular findings are associated with Waardenberg's syndrome?: Heterochromatic irides
What ocular findings are associated with Neurofibromatosis I?: Lisch nodules (iris hamartomas)
Optic nerve gliomas
What ocular findings are associated with Tuberous sclerosis?: Retinal phakomas
What ocular findings are associated with Gardner's syndrome?: Congenital hypertrophy of retinal pigment epithelium (CHRPE)
What ocular findings are associated with Gorlin's syndrome?: Cataracts
Colobomas
What ocular findings are associated with Dyskeratosis congenita?: Blepharitis
Conjunctivitis
What ocular findings are associated with Ehlers Danlos I (classical)?: Blue sclerae
What ocular findings are associated with Ehlers Danlos with kyphoscoliosis?: Ruptured globe
Retinal detachment
Intraocular hemorrhage
What ocular findings are associated with Goltz syndrome (focal dermal hypoplasia)?: Coloboma
What ocular findings are associated with Marfan syndrome?: Ectopia lentis- upward displacement of the lend
What ocular findings are associated with Pseudoxanthoma elasticum?: Angioid streaks
What ocular findings are associated with Osteogenesis imperfecta?: Blue sclerae
What ocular findings are associated with Gaucher's disease?: Pingueculae
What ocular findings are associated with Homocysteinuria?: Downward displacement of the lens
What ocular findings are associated with Niemann-Pick?: Cherry red spots on the retina
What ocular findings are associated with Cockayne syndrome?: "Salt and pepper" retinal pigment
Cataracts
Miotic pupils
Optic atrophy
What ocular findings are associated with Nail-Patella syndrome?: Lester iris- hyperpigmentation of the papillary margin
What radiographic findings are associated with Conradi-Hunerman-Happle?: Stippled epiphyses
Scoliosis
Limb shortening
What radiographic findings are associated with Papillon-Lefevre?: Dural calcification
Teeth- alveolar bone resorption
What radiographic findings are associated with Gorlin syndrome?: Calcification of the falx cerebri
Bifid ribs
Odontogenic keratocysts
What radiographic findings are associated with SCID?: Absent thymic shadow
What radiographic findings are associated with Marfan's syndrome?: Aortic aneurysm
What radiographic findings are associated with Sturge-Weber?: Tram-track calcifcations in the brain

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Number of cards 131