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Genoderms Flashcards

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1
Q

Goltz - gene dominance and gene?

A

XLD. PORCN gene

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2
Q

GOLTZ acronym - 2 options

A

GOLTZ
Golden papule (fat herniation through atrophic dermis, blashkoid dermal atrophy.
Osteopathia striata
Lobster claw (ectrodactaly), Low set ears
Teeth/hair/nail
EyeZ (sml eyes - microphthamia, coloboma)

FOCAL
Female (85-90%) XLD
Osteopathia striata
Coloboma
Absent – hair, skin (blashkoid dermal atrophy, aplasia cutis), nails
Lobster claw (ectrodactaly)

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3
Q

Nevoid BCC Syndrome - Gene, dominance?

A

PTCH1 (Patched1 tumour suppressor gene in the sonic hedgehog pathway. Reduced patched = uncontrolled cell proliferation. Autosomal dominant, 50% new mutations.

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4
Q

Gorlin Syndrome main features.

A

Picture a person with a patch over one eye (PTCH1 gene), frontal bossing, jaw cysts, lots of BCCs, palmoplantar pits, calcified falx.

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5
Q

Netherton Syndrome - gene and dominance
What does gene encode

A

Autosomal Recessive.
SPINK5 gene. Encodes LEKT1 (serene protease inhibitor that decreases inflammation)

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6
Q

Hair changes Netherton Syndrome.

A

Trichorrhexis invaginate (bamboo hair), short sparse hair esp eyebrows.

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7
Q

Acronym for Netherton Syndrome

A

BARE ASS SPANK
Bamboo hair
Atopic dermatitis
Recessive
E IgE
Anaphylactic food allergy
Seb derm
Serine Protease
Spank = SPINK5

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8
Q

List of conditions with multiple cafe au lait macules:

A

NNCM CALLM
Need to do

Noonans
NF
Blooms
MEN

Cowden
Ataxia telangiectasia
Leopard
Legius
McCune-Albright

NF1
TSC
McCune-Albright syndrome Noonan syndrome
Legius syndrome
Carney Complex (NAME & LAMB)
Cowden syndrome

Proteus
Proteus like

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9
Q

Noonan syndrome (LEOPARD syndrome) acronym:

A

L: Lentigines - multiple
E: ECG abnormalities: cardiac defects.
Ocular hypertelorism: widely spaced eyes.
Pulmonary stenosis.
Abnormalities of the genitals: undescended testicles.
Retarded growth: short stature.
Deafness or hearing loss.

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10
Q

What is Carney Complex (LAMB syndrome + NAME syndrome):

A

Cutaneous lentigenies with atrial myxomas.

LAMB
Lentigenies
Atrial Myxoma
Mucocutaneous Myxomas
Blue naevi

NAMB
Naevi
Atrial and cutaneous myxoma
Myxoid neurofibromatos
Ephelides

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11
Q

Multiple lentiginies Lips. What syndromes?

A

PALM

Peutz Jeghers syndrome
Addison disease
Laugier-Hunziker syndrome
Multiple lentiginosis (various syndromes including Noonan syndrome with multiple lentigines).

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12
Q

Peutz-jeghers cutaneous symptoms & other associations/risks

A

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

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13
Q

Laugier-hunziker syndrome.
Inheritance/signs/associations.

A

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.

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14
Q

What are genes for Xeroderma Pigmentosum? Inheritance pattern?

A

AR
XPA to XPG genes
(nucleotide excision repair pathway)

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15
Q

What is Xeroderma Pigmentosum?

A

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

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16
Q

At what age does Neurofibromatosis Type I typically present?

A

Birth to early childhood

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17
Q

What symptoms may be associated with the growth of a neurofibroma?

A

Pruritus

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18
Q

What should be enquired about in the history of a patient with Neurofibromatosis Type I?

A

Pain, visual complaints, weakness, neurologic deficits, headaches, seizures, school progress, developmental hx

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19
Q

What is the typical order of appearance of symptoms in Neurofibromatosis Type I?

A

Café au lait macules, axillary/inguinal freckling, Lisch nodules, neurofibromas

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20
Q

What are the four types of neurofibromas?

A
  • Cutaneous
  • Subcutaneous
  • Deep nodular (nodular plexiform)
  • Diffuse plexiform
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21
Q

What are the diagnostic criteria for NF1?

A

2 or more:
ABCDEFG
A - axillary/inguinal freckling
B - Bone - sphenoid dysplasia, scoliosis
C- ALMS >6 >5mm prepubertal, >15mm post-pubertal
D - Degree relative 1st
E - eye - lisch nodules
F - NeuroFibromas (2 OR 1 plexiform neurofibroma)
G - optic gliomas

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22
Q

What are Lisch nodules?

A

Melanocytic hamartomas of the iris, do not cause functional impairment of vision

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23
Q

What is the most common intracranial neoplasm associated with Neurofibromatosis Type I?

A

Optic glioma

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24
Q

What is a common musculoskeletal manifestation in Neurofibromatosis Type I?

A

Scoliosis

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25
What is the risk of malignancy in patients with Neurofibromatosis Type I?
8-15% Malignant peripheral nerve sheath tumours - peaks in young adults
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What types of tumors can occur in Neurofibromatosis Type I?
* Malignant peripheral nerve sheath tumours * Other CNS neoplasms * Soft tissue sarcomas * Phaeochromocytoma
27
What is the management approach for neurofibromas and plexiform neurofibromas?
* Annual follow up * Examination for neurofibromas * BP check annually * Removal if pain, bleeding, or interference with function * Debulking for plexiform neurofibromas * Urgent MRI/PET-CT if plexiform neurofibroma painful, rapid growth, new neurologic deficit Selumetinimib (MEK inh)
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What is the inheritance pattern of Neurofibromatosis Type I? Gene?
AD, spontaneous mutation in 50%. NF1 (neurofibromatosis 1 - which encodes neurofibromin)
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What are the potential complications of Neurofibromatosis Type I?
* Disfigurement * Blindness * Loss of limb function * Organ dysfunction from compression * Cognitive defects * Malignancy
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Treatment options for Neurofibromatosis Type I?
* MDT - paeds, genetics, opthal, ortho, ENT, Neuro, Onc, SW, Surg * Selumetinib (MEK inh) - for gliomas and PNFs * Imatinib (tyrosine kinases) * Sirolimus (mTOR) * PDT * Laser * Surgery * VEGFRs
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What is the recommended frequency for ophthalmologic examination in children with Neurofibromatosis Type I?
Twice annually for at least the first 6 years
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What is the recommended screening for breast cancer in Neurofibromatosis Type I?
Clinical exam, mammography +/- MRI from aged 30yrs
33
List TEN (10) autosomal dominant conditions (other than neurofibromatosis) where café-au-lait macules are a clinical feature.
TWO CALM CaLM PuNNs T- TSC W - Watson o - C- Cowden A - Mc-Cune Albright L - LEOPARD M - MEN1 C - Carney Complex a L - Legius M - MEN2B P - Piebaldism u - N - Noonan N - Neurofibromatosis
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Ocular features of neurofibromatosis type 1, timing of onset, expressivity, appearance, progress and possible complications.
1. Lisch nodules (Iris Harmatomas) - pre-school, 90% by 20yrs 2. Choroidal nodules - 80% adults 3. Glaucoma 4. Optic Glioma - school age, 20% children Blindless - late sign 5. Plexiform neuromas on eyelids 1. no functional impairment 2. NA 3. cometic with proptosis, functional w blurred vision 4. visual field loss 6. functional and cosmetic (covers eye)
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Cutaneous features of neurofibromatosis type 1, timing of onset, expressivity, appearance, progress and possible complications.
1. CALMs 6 or more (>15mm postpubertal, >5mm prepubertal) - birth 2. Naevus anemicus 3. JXGs - pre-school 4. Freckling "Crowe Sign" - early school age 5. Neurofibromas - puberty 6. Plexiform neurofibromas Cosmetic, Functional, Malignant peripheral nerve sheath tumours
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Cowden syndrome Skin and Systemic Sx?
Skin: Tricholemmomas, oral papilomas (cobblestone tongue), sclerotic fibromas, acral keratotic papules, punctate palmoplantar keratoses, lipomas, Cancer: Breast, Thyroid, Endometrial GI polyps, craniomegaly
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Cowden syndrome other organ involvement - w example (5)
1. Craniofacial and skeletal - macrocephaly, scoliosis 2. Thyroid - goiter, carcinoma 3. Breast - Fibroadenomas, Adenocarcinoma 4.. GI - benign polyps, very rare adenocarcinoma 5. Endometrial cancers
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Cowden syndrome gene and dominance
PTEN tumour suppressor gene encodes tyrosine phosphatase. AD
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Cowden mneumonic for gene + signs
P COWDEN P - PTEN C - cafe au lait O - oral papillomas, cobblestone tongue W - wide head (macrocephaly) D - Derm - tricholemmomas, palmar keratoses E - Endometrial malignancy N - neoplasia - thyroid, breast malignancy
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Cowden syndrome 3 most common mucocutaneous lesions
Oral papillomas Acral keratomas Tricholemmomas
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Cowden syndrome risk of malignancy and 3 most common organs for malignancy?
85% of pts develop a malignancy. Most common thyroid, breast, endometrium
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Yearly screening for Cowden Syndrome
1. physical exam from 18yrs (or 5yrs prior to youngest age cancer in family: - skin, thyroid and breast 2. breast - monthly self-examinations. Women: mammogram or MRI from 30-35yrs or 10yrs prior to youngest breast cancer diagnosis in the family. 3. Thyroid USS after 7yrs 4. Colonoscopy after 35 years, then 5 yearly • Consider: (1) prophylactic mastectomies (2) endometrial biopsy every 1–2 years and/or endometrial ultrasound beginning at menopause; and (3) renal ultrasound every 1–2 years beginning at age 40 yearso
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Diagnostic criteria Cowden syndrome
Operational diagnosis in an individual: 3 major criteria including macrocephaly, LDD, or GI hamartomas –or– 2 major criteria + 3 minor criteria Operational diagnosis when a family member meets diagnostic criteria or has a PTEN mutation: 2 major criteria –or– 1 major + 2 minor criteria –or– 3 minor criteria Major • Multiple mucocutaneous lesions (any of the following): • Tricholemmomas (≥3, at least 1 biopsy-proven) • Acral keratoses (≥3 papules or palmoplantar pits) • Mucocutaneous neuromas (≥3) • Oral papillomas, particularly on tongue &gingiva (≥3, biopsy-proven, or dermatologist-diagnosed) • Pigmented macules on the glans penis • Macrocephaly (>97th %ile; 58 cm in adult women, 60 cm in adult men) • Lhermitte–Duclos disease (LDD; in an adult) • Breast cancer • Endometrial cancer (epithelial) • Thyroid cancer (follicular) • Gastrointestinal (GI) hamartomas, including ganglioneuromas, but not hyperplastic polyps (≥3) Minor • Vascular anomalies, including multiple intracranial developmental venous anomalies • Lipomas (≥3) • Testicular lipomatosis • Autism spectrum disorder • Intellectual disability (IQ ≤75) • Renal cell carcinoma • Colon cancer • Esophageal glycogenic acanthosis • Thyroid cancer (papillary or follicular variant of papillary) • Thyroid structural lesions (e.g. adenoma, multinodular goiter)
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Gorlins diagnostic criteria (bcns)
2maj + 1min or 1maj + 3min Major BCCs >5, <20yrs Palmoplantar pits Family member Calcified falx cerebri Odontogenic cysts Minor Frontal bossing Extra digits Extra ribs or bifid ribs Cysts: pleural or mesenteric Cleft lip/palate Ocular abnormalities incl Cataracts
45
What is the main structural component affected in Darier disease and Hailey-Hailey disease?
Intermediate filament complex ## Footnote Both conditions show clinical similarities related to structural components of the epidermis.
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Clinical patterns of: Darier disease and Hailey-Hailey disease and Grover’s? Similarities of darier and hailey Hailey
Similaires Hailey Hailey and darier disease: * Intertriginous involvement * Vesiculobullous lesions * Nail changes * Exacerbation with heat * Frequent superinfections
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Which gene mutations were identified in patients with Darier disease? Dominance?
Mutations in ATP2A2. AD ATP2A2 encodes a sarcoplasmic/endoplasmic reticulum Ca'+ ATPase.
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Which gene mutations were shown to cause Hailey-Hailey disease? Dominance?
Mutations in ATP2C1 AD ATP2C1 encodes a Ca'+ ATPase localized to the Golgi apparatus.
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What role does calcium play in the context of Darier disease and Hailey-Hailey disease?
Defects in the calcium ATPase pumps - mutations lead to abnormal calcium signaling and impaired keratinocyte adhesion, causing the characteristic blistering
50
Cutaneous signs tuberous sclerosus
90% pts have skin lesions Calms, shagreen patch (collagenoma), angiofibromas 3-10yrd of age, Ash leaf lesions - hypopigmented patches (confetti pattern pretibally), Periungal fibromas
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Non cutaneous involvement tuberous sclerosus
Harmatomas Neuro 70% pts have Epilepsy, cortical tubers, astrocytomas, Intellectual disability Mortality is related to seizure complications • Renal findings: renal cysts, angiomyolipomas, renal cell carcinoma ■ Complications of renal disease = #2 cause of premature death Eye - retinal harmatomas Cardiac rhabdomyomas Dental, pulmonary, GIT
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Treatment tuberous sclerosus
• Treatment of facial angiofibromas: pulsed dye laser, ablative laser, excision, and topical rapamycin ■ Systemic mTOR inhibitors (i.e., sirolimus and everolimus) used for management of renal and hepatic angiomyolipomas and subependymal giant cell astrocytomas Neurology - antiepileptics
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Diagnostic criteria TSC
pathogenic mutation in TSC1 or TSC2 OR 2 major criteria OR 1 major criteria + 2 minor criteria. Possible: 1 major or 2 minor criteria Major: ≥3 Angiofibromas or fibrous cephalic plaque ≥3 Hypomelanotic macules >5 mm in diameter ≥2 Ungual fibromas Shagreen patch Multiple retinal hamartomas Cortical dysplasias Subependymal nodules Subependymal giant cell astrocytoma Cardiac rhabdomyoma Lymphangioleiomyomatosis ≥2 Angiomyolipomas Minor: ≥3 Dental enamel pits ≥2 Intraoral fibromas “Confetti”-like skin lesions Nonrenal hamartomas Multiple renal cysts Retinal achromic patch
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Darier disease gene, dominance. What pathway involved?
Autosomal dominant disorder ATP2A2 result in dysfunction of an endoplasmic reticulum Ca2+ ATPase (SERCA2), thus interfering with intracellular Ca2+ signaling
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Dariers disease Characterized histologically by acantholytic dyskeratosis with suprabasilar clefting, “corps ronds”, and “grains”
56
What is reed syndrome? Main signs? Complications?
Familial cutaneous leiomyomas Pilar leiomyomas Genital & uterine leiomyomas Angioleiomyomas Compl: 15% risk of RCC
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Reed syndrome dominance, what does the gene encode for?
AD, fumate hydratase - krebs cycle cellular respiration
58
Memory Palace for Gorlins diagnostic Criteria
🏰 MEMORY PALACE: “The Gorlin Castle” Imagine walking up to a strange castle owned by a family called the Gorlins. We’ll move from outside → entrance → inside → upstairs. 🌳 OUTSIDE THE CASTLE (Major Criteria Live Outside) As you approach: 1️⃣ The castle walls are covered in hundreds of tiny crabs 🦀 = Basal Cell Carcinomas (<20 or excessive BCCs) They’re crawling everywhere on a teenager guard. 2️⃣ The front garden is full of giant teeth growing from the ground 🦷 = Odontogenic keratocysts (jaw cysts) 3️⃣ The guard shakes your hand — his palms are full of deep pits 🕳️ = Palmoplantar pits 4️⃣ Look up — above the gate is a glowing white calcified sickle moon 🌙 = Calcified falx cerebri (<20 yrs) 5️⃣ A little child wizard runs past holding a medal-shaped brain 🧠🏅 = Childhood medulloblastoma 6️⃣ The entire castle has a big sign: “Family Owned for Generations” 👨‍👩‍👧 = First-degree relative with BCNS 👉 All the major criteria are outside because they’re big, obvious, diagnostic. 🏠 INSIDE THE CASTLE (Minor Criteria Live Indoors) Now walk inside. 1️⃣ The butler has a massive oversized head 🎈 = Macrocephaly 2️⃣ He has extra fingers ✋✋➕ = Skeletal malformations (polydactyly) 3️⃣ The dining hall chairs are made of split ribs and twisted vertebrae 🦴 = Vertebral/rib anomalies 4️⃣ The portraits on the wall all have strange cloudy eyes 👁️ = Ocular anomalies 5️⃣ In the kitchen, the chef has a cleft lip 👄 = Cleft lip/palate 6️⃣ In the ballroom are two giant bouncing balls: One shaped like an ovary One shaped like a heart ❤️🥚 = Ovarian or cardiac fibromas 7️⃣ The basement is full of fluid-filled balloons 🎈 = Lympho-mesenteric or pleural cysts 🔥 How to Recall Under Pressure If asked in exam: Picture the castle. Outside = Major Inside = Minor Walk the scene in order. The absurd imagery forces recall.
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Syndromes associated with multiple BCCs
Gorlins Rombo Xeroderma Pigmentosa Brooke Spiegler
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Fibrofolliculomas or trichodiscomas. Lung cysts/pneumothorax. RCC
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What are they? What gene test?
Trichofolliculomas CYLD - brooke spieler
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Cylindromas
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Gardener syndrome dominance, gene?
AD APC gene (tumour suppressor gene regulates b-catenin) 1 in 7000-30000 M=W Skin – epidermal cysts, pilomatricomas, fibromas Desmoid tumours (musculoaponeurotic tumours, locally aggressive, in scars) GI Intestinal polyposis Colorectal and small intestine cancer Eyes - CHRPE (congenital hypertrophy of retinal pigment epithelium) Supernumerary teeth Osteomas (frontal bone, mandible, maxilla) Malignancy: Colorectal cancer <40ys Thyroid, liver, pancreatic
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Gardener syndrome, skin and other findings?
Skin – epidermal cysts, pilomatricomas, fibromas Desmoid tumours (musculoaponeurotic tumours, locally aggressive, in scars) GI Intestinal polyposis Colorectal and small intestine cancer Eyes - CHRPE (congenital hypertrophy of retinal pigment epithelium) Supernumerary teeth Osteomas (frontal bone, mandible, maxilla)
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What is malignancy risk gardeners?
Malignancy: Colorectal cancer <40ys Thyroid, liver, pancreatic
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ROMBO syndrome main signs
BCCs Hypotrichosis Telangiectasias Trichoepitheliomas Normal sweat (compared to Bazex)
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Xeroderma Pigmentosum
Increased photosensitivity due to damage in the DNA repair pathways. Lentigines, skin cancers, poikiloderma, retinal damage. Skin lesions >6mths old 1000 x inc risk of skin cancers <20yrs (average 8yo).
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XP gene and dominance
69
What is this? Assoc condition
Large map like cafe au lait macule. Assoc w McCune Albright syndrome
70
McCune Albright syndrome , gene?
GNAS1, not inherited
71
ddx for benign facial skin coloured papule
Syringomas Trichoepitheliomas Spiroadenomas Hidradenomas Trichodiscoma Colloid milium Sebaceous hyperplasia Keratosis pilaris Seb ks Poromas – apocrine/eccrine Plane warts Molluscum Neuromas Angiofibromas Osteomas
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Genoderms
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