Genoderms Flashcards
(17 cards)
Goltz - gene dominante and gene?
XLD. PORCN gene (porcupine homologue, gene locus Xp22.31
GOLTZ acronym
Golden papule
Osteopathia striata
Lobster claw, Linear lesions
Teeth/hair/nail
UlcerZ, eyeZ
Nevoid BCC Syndrome - Gene, dominance?
PTCH1 (Patched1 tumour suppressor gene in the sonic hedgehog pathway. Reduced patched = uncontrolled cell proliferation. Autosomal dominant, 50% new mutations.
Gorlin Syndrome main features.
Picture a person with a patch over one eye (PTCH1 gene), frontal bossing, jaw cysts, lots of BCCs, palmoplantar pits, calcified falx.
Netherton Syndrome - gene and dominance
Autosomal Recessive.
SPINK5 gene. Encodes LEKT1 (serene protease inhibitor that decreases inflammation)
Hair changes Netherton Syndrome.
Trichorrhexis invaginate (bamboo hair), short sparse hair esp eyebrows.
Acronym for Netherton Syndrome
BARE ASS SPANK
Bamboo hair
Atopic dermatitis
Recessive
E IgE
Anaphylactic food allergy
Seb derm
Serine Protease
Spank = SPINK5
List of conditions with multiple cafe au lait macules:
Neurofibromatosis, McCune-Albright syndrome, Noonan syndrome, Constitutional mismatch repair deficiency (CMMR-D), Legius syndrome, tuberous sclerosis,
Noonan syndrome (LEOPARD syndrome) acronym:
LEOPARD syndrome include:
Lentigines: These brown spots are a hallmark of the condition.
Electrocardiographic (ECG) abnormalities: These can indicate problems with the heart’s electrical activity.
Ocular hypertelorism: This refers to widely spaced eyes.
Pulmonary stenosis: This is a narrowing of the pulmonary valve, which can affect blood flow to the lungs.
Abnormalities of the genitals: These can include issues like undescended testicles.
Retarded growth: Individuals with LEOPARD syndrome may have a shorter-than-average height.
Deafness or hearing loss: This can be due to inner ear problems.
What is Carney Complex (LAMB syndrome + NAME syndrome):
Cutaneous lentigenies with atrial myxomas.
Lentigenies
Atrial Myxoma
Mucocutaneous Myxomas
Blue naevi
Naevi
Atrial and cutaneous myxoma
Myxoid neurofibromatos
Ephelides
Gene for carney syndrome. Dominance pattern.
Associations.
PRKAR1A gene, autosomal recessive.
Endocrine neoplasms (eg adrenal gland->cushings). thyroid, pituitary, testicle tumours. Schwanomas, mammary fibromas.
Multiple lentiginies Lips. What syndromes?
Peutz Jeghers syndrome
Addison disease
Laugier-Hunziker syndrome
Multiple lentiginosis (various syndromes including Noonan syndrome with multiple lentigines).
What is peutz-jeghers gene and inheritance pattern?
STK11/LBK1 serine threonine kinase.
AD
Peutz-jeghers cutaneous symptoms & other associations/risks
pigmented macules (lentigines) on lips, buccal mucosa, digits, other mucosa, other mucosa - all by time of 20yrs.
GI polyps: intussecpition, bleeding, anaemia, vomiting.
93% develop cancer (usually GI, then lung, breast) before age of 65yrs
Laugier-hunziker syndrome.
Inheritance/signs/associations.
Pigmented macules on lips, buccal mucosa, genitals and other mucosa.
Melanonychia in ~50%.
No increased cancer list.
Thought to be spontaneous mutation and hence no inheritance pattern.
What are genes for Xeroderma Pigmentosum? Inheritance pattern?
AR
XPA to XPG genes
(nucleotide excision repair pathway)
What is Xeroderma Pigmentosum?
Increased photosensitivity due to damage in the DNA repair pathways.
Lentigines, skin cancers, poikiloderma, retinal damage.
Skin lesions appear after 6mths.
1000 x inc risk of skin cancers <20yrs (average 8yo).
Also some assoc w cockayne syndrome (basal ganglia calcification).
Also assoc w trichothiodystrophy, neurodevelopmental issues (20-30%).
Rare: Solid and CNS tumours.
Severe pts: high risk of mortality <20yrs due to melanoma or invasive SCC
