Genoderms1

CCFIB
-CHILD syndrome
-Conradi-Hunerman
-Focal Dermal Dysplasia
-Incontinentia Pigmentii
-Basex

defect in profilaggrin synthesis

STS gene.
Arylsulfatase C.
-Comma shaped corneal opacities
-Colored scale
-Cryptidorchidism

AD, K1 and K10
-tonofilament clumping (EM)
-ker. fragility, friction causes most blisters

AR, TGM1 gene
-Colloidal baby
-hyperproliferative keratosis

AR, heterogenous, TGM1 in some patients.
ALOX12B, ALOXE3 Lipoxegenases.

Colloidian baby, later generalized white/fine scale

AR most likely, ABCA12 gene.

AR, FALDH gene
-defective conversion of fatty alcohol to fatty acid which is important in epidermal lipid synthesis

PAHX gene, PEK7 gene.
Phyonic acid storage disease.

-deafness, mild ataxia, cardiac arrythmias, heart blocks.

"X-linked chrondrodysplasia punctata"
-EBP gene

icthyosiform erythroderma, patchy alopecia, stippled epiphyses (punctate calcifications) on x-rays.

Congenital Hemidysplasia with ichthyosiform erythroderma and Limb Defect.

X-linked dominant, HSDHL gene

ipsilatral alopecia, limb deformity

"Icthyosis linearis circumflexa"

AR, SPINK% encoding LEKT1.

bamboo hair (tricchorhexis invaginata), lateral eyebrow most common site.

Aut Dom.
GJB3 gene.

Well demarcated geographic patches of erythema with changing shape and position every day.

-chronic course, then stable after puberty

Keratitis-icthyosis-deafness syndrome

-Aut. Dom, GJB2 gene (Mendes de Costa is GJB3)
-Encodes for connexin 26, a gap junction protein in epitheliium and cochlea

-Alopcia, dystrophic nails, PPK with stippled surface, increased fungal infections, SCC skin, tongue

Epidermolytic PPK
Keratin 9>1
no transgradiens
shortly after birth

Nonepidermolytic PPK
-K1

no transgradiens.
-just like vorners has disrupted keratin filament assembly in palmoplantar skin

AD, tylosis and esophageal cancer (3rd decade), palmoplantar keratoderma (2nd decade)

AD, classic form with deafness GJB2 (same gene for KID syndrome)

Loricrin gene on epidermal differentiation ocmplet

-pseudoanhain
-starfish keratosis on hands
-scarring alopecia
-high freq. hearing loss

Palmoplantar keratoderma with periodontosis.

Aut. red CTSC gene-->encodes cathepsin C, a lysosolam protease.

Malodorous ppl with transgradiens
dural calcifications

"stinky hard headed frenchman with bad teeth"

Tyrosinemia type II.

AR, tyrosinase aminotransferase
-painful keratoderma/hyperkeratosis-wt. bearing surfaces commonly
-MR
-pseudoherpetic keratitis
"retarded ricky cries cause his hands hurt"

-High tyrosine
-treat with low phenylalanine, low tyrosine diet

Darier's
ATP2A2, AD
encodes SERCA2 (sarcoplasmic reticulum CA2+-ATPase)

Sporadic.

Assoc. with vitamin D resistant rickets.
Ocular colobomas
-MR, seizures, spastic hemiparesis
-kyphoscoliosis, limb deformities

AR, TYR gene

NORMAL # MELANOCYTES OF ABSENT TYROSINASE ACTIVITY.

SNOW WHITE HAIR, BLUE-GRAY IRIDES, SEVERE NYSTAGMUS, PROMINENT RED REFLEX THROUGHOUT LIFE.

AR, P gene, DECREASED MELANIN SYNTHESIS.

PINK-WHITE COLORED HAIR

OCA3 TYRP1-?ROOFOUS TYPE
TYPE 4 MATP-JAPAN

AP3B1 gene, AR HPS1 gene.
Puerto Rican
AP3
Plt abnormalities
Tyrosinase +

Beeding diathesis,
increased bleeding time.
EM=plts with dense granules
avoid ASA and other prostoglandin inhibitors

AR, LYST gene (lysosomal tracking protein that regulated microtubule mediated lysosomal fusion.

melanocytes-pigment dilution
neuts. decrease phagocytosis
bleeding diathesis

AR
Myosin5A-primarily neuro impairment
RAB27a-hemophagocytc syndrome and secondary impairment

-Irregular large clumps of melanin pigment in hair-microscopy shows hair with metallic silvery gray sheen

AD,
"Familial white spotting"
c-kit mutation.
abnormal tyrosine kinase transmembrane receptors.

-->decreased number or absent melanocytes

AD
Pax3
MITF
Pax3
SOX10

transcriptional factors in neural crest differentiation

not inherited,
chromosomal or single gene mosaicism.

Unilateral and bilateral whorled marble cake hypopigmentation in Blaschko's lines

X-linked dominant
NEMO gene

StageI-vesicles and bullae in linear arrangement on extremities and trunk

verrucous streaks of hyperkeratotic papules

SIII-Hyperpigmented whorls and sworls along Blashko's lines
IV-Hypopigmented swirls replacing hyperpigmentation

PTPN11 gene, AD--->encodes a nonrec. tyrosine phosphatase SHP2 and impicated in Noonan's syndrome

Lentigines
EKG defects
Ocular hypertelosirsm
Pulmonic stenosis
Abnl. genitalia
Retardation
Deafnes

AD, PRKARIA gene
"Carney PARKthe KAR"
tumor suppressor encoding regulatory subunity type IA

GNAS1 gene
-encodes a subunit of stimulatory G proteins that regular adenylate cyclase

-Hyperthyroid
-Precocious puberty
-Cafe-au-lait macules, long bones and facial bones with polyostotic fibrous dysplasia

AD, SCH gene
defect in schwannomin, the gene product.

pigmented neurofibroma with hair

AD, TSC 1 gene on chromosome 9-hamartin.
TSC2 gene on chr. 16 (tuberin). #2 may be associated with renal cysts and deletino in PKD-1.polycystic kidney disease 1

AD, Mutation in fibrillin 1 on chr 15.

Striae distensae
Pectus excavatum

Vohwinkel (GJB2) (conn 26)
Papillon-Lefevre (CTSC) (cathepsin c)
Mal de malada (SLURP 1)
Olmstead

Refsum
(Phytanic acid storage disease)

8-dehydrocholesterol and 8 (9)-cholesterol.

-due to EBP gene mutation that typically encodes 3B-hydroxysteroid 8-7-isomerase.

-in adolescence may present with patchy alopecia and segmental atrophoderma.