Pediatric Derm Chapter 4 Flashcards
Macrocystic lymphatic malformations
(cystic hygroma) are associated with?
Down’s syndrome and Turner’s syndrome. Also Noonan and achondroplasia.
Cystic hygroma’s are congenital lesions resulting from abnormal lymphatic development during embryogenesis.
Macrocystic lymphatic malformations
(cystic hygroma) usually present at birth (60%) on what location?
Head, neck, and axilla/chest, favoring left side.
What markers are positive in macrocystic lymphatic malformations, i.e. cystic hygroma’s?
D2-40 (podoplanin) and LYVE-1 positive.
Complications include: Pleural/abdominal/pericardial effusions, lymphedema, cardiac failure, and respiratory failure
Another name for disappearing bone disease?
Gorham-Stout
Congenital lymphedema (Nonne-Milroy syndrome) is most commonly in females is due to mutations in?
FLT4 gene
AD inheritance; due to loss-of-function mutations in FLT4 gene (encodes VEGFR3, which is required for lymphatic development)
Congenital lymphedema, painless pitting edema of bilateral lower extremities, is associated with?
hydrocele, prominent veins, and
upslanting toenails
What is the mutation in the peripubertal (10-30 yrs) form of congenital lymphedema?
FOXC2 mutation. AD inheritance of Lymphedema-distichiasis syndrome. Extra eyelashes = distichiasis
What factors exacerbate AVM’s?
Pregnancy, puberty, trauma.
Difference between Klippel–Trénaunay syndrome (KTS) and Parkes-Weber syndrome (PWS)?
KTS has slow-flow malformations vs. PWS has multiple fast-flow AVMs and shunts
Associations of heart and bone in Parkes-Weber syndrome (PWS)?
High-output cardiac failure can occur in infancy or later in life and the development of lytic bone lesions can be seen.
What is Cobb syndrome (cutaneomeningospinal angiomatosis)?
Spinal hemangioma or AVM (most common) + cutaneous AVM or CM (depending on source cited) of the same metamere of the torso dx: MRI
Bonnet-Dechaume-Blanc syndrome?
Is basically a facial metameric AVM extending to the brain/orbit.
Cutis marmorata telangiectatica congenita, present at birth as reticulated erythematous-violaceous vascular network usually on lower extremities and unilateral.
What is Adams-Oliver syndrome?
Cutis marmorata telangiectatica congenita + aplasia cutis + transverse limb defects.
Fabry’s disease is secondary to deficiency in?
alpha-galactosidase (GLA gene mutation)
AKA Angiokeratoma corporis diffusum
Fabry’s disease features?
1- Pubertal males develop thousands of angiokeratomas in “bathing trunk” distribution between umbilicus and knees
2- “Whorl-like” corneal opacities
3- Posterior capsular cataracts
What is “Fabry’s crisis”?
often the initial manifestation in early childhood; Episodic +/- chronic paresthesias, often triggered by stress, temperature or fatigue; can develop peripheral neuropathy
Heart and kidney dysfunction in Fabry’s?
■ Cardiac rhythm/conduction abnormalities, cardiomegaly, CHF, CVAs, angina/myocardial infarction (MI), peripheral edema, and hypertension
■ Renal destruction → polyuria, hematuria, and renal failure
Urinalysis typically reveals birefringent lipid globules (“Maltese crosses”)
Tx of Fabry’s?
Recombinant enzyme therapy is the treatment of choice, and can reverse/delay cardiac, renal, and neurologic complications
What is Fucosidosis?
AR lysosomal storage disease as a result of a mutation/deficiency in a-L fucosidase
Inheritance of Pachyonychia congenita?
AD mutations in KRT6A, KRT6B, KRT16, and KRT17 genes
Unilateral nevoid telangiectasia. Acquired w/ puberty, pregnancy, estrogen therapy or liver disease
Angioma serpiginosum. Pinpoint red to violaceous papules usually in a serpiginous pattern. May be purpuric, usually on lower extremities. More common in women.
Generalized essential telangiectasia. Macular, retiform, or linear. may coalesce to form large patches begins on lower legs and spreads proximally. More common in females.
Hereditary benign telangiectasia AD mutation in?
TELAB1 gene on 5q14. Variable morphology including macular, punctate, or plaque-like. Surrounding pallor first appear between 2 and 12 years of age predominantly on face, arms, upper trunk.
Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome) AD mutation in?
Endoglin (HHT1), activin receptor-like kinase 1 (ALK1) (HHT 2) or growth/differ- entiation factor-2 (GDF2) gene
Hereditary hemorrhagic telangiectasia predilection for lips, tongue, palate, nasal mucosa, ears, palms, soles, and nail beds. most common initial presentation is epistaxis at night time.
Ataxia telangiectasia (Louis-Bar syndrome) AR* mutation in?
(ATM) gene. Note: female carriers of the ATM gene have ↑ risk of breast cancer.
Telangiectasia in “Ataxia telangiectasia” first appear on the?
First appear on bulbar conjunctivae at 3–5 years of age but first manifestation is usually truncal ataxia followed by choreoathetosis, myoclonus, and oculomotor signs (progressive neurologic deterioration)
Immunodeficiency in “Ataxia telangiectasia”?
Immunodeficiency:
↓ IgA
↓IgG
↓ IgE
↑ IgM
Chronic sinopulmonary infections w/ Streptococcus pneumoniae. Bronchiectasis → respiratory failure = #1 cause of death
Ataxia telangiectasia associated CA?
↑ Risk of malignancies esp. leukemia and lymphoma in adolescence; also breast CA
Type I, Jadassohn-Lewandowski, Pachyonychia congenita mutation and manifestations?
KRT6A and KRT16
○Recurrent paronychia
○Benign oral leukoplakia of the tongue and buccal mucosa (vs. premalignant in dyskeratosis congenita)
○Follicular hyperkeratosis of knees, elbows, back, and buttocks
Type II, Jackson-Lawler, Pachyonychia congenita mutation and manifestations?
KRT6B and KRT17
○Natal teeth
○Oral leukokeratosis (minimal)
○Steatocystomas
○Milder keratoderma
Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) mutation and TRIAD?
XLR mutations in ectodysplasin (ED1). Clinical triad:
↓ sweating, hypotrichosis, abnormal dentition.
Mutation in hypohidrotic ectodermal dysplasia with immunodeficiency?
IKBKG/ NEMO (XLR) or NFKBIA (AD); susceptible to recurrent pyogenic or atypical mycobacterial infections
Mutation in Hidrotic ectodermal dysplasia I.e. Clouston syndrome?
GJB6 (connexin 30); autosomal dominant mutation
Triad for Hidrotic ectodermal dysplasia (Clouston syndrome)?
1- PPK with stippling, a common feature in connexin PPKs
2- Onychodystrophy
3- Hair abnormalities, hypotrichosis with thin or brittle hair
Clouston syndrome buzzword?
tufted distal phalanges
Thickened scapulae or absent patella buzzwords?
Nail-patella syndrome
Broad thumbs buzzword?
Rubinstein-Taybi syndrome
Clinodactyly buzzword?
Cornelia de Lange syndrome or Russell-Silver syndrome
Ectodermal dysplasia with ankyloblepharon (stuck eyes) is also known as?
Hay-Well’s syndrome
Ectodermal dysplasia with “lobster claw” also presents with?
Ectrodactyly ectodermal dysplasia-cleft palate syndrome (EEC)
+ conductive hearing loss
+ genitourinary anomalies
Schöpf-Schulz-Passarge syndrome? Mutation and px?
WNT10A mutation - AR
Ectodermal dysplasia with multiple eyelid apocrine hidrocystomas, increased risk of BCC, hypodontia, hypotrichosis, PPK, and nail dystrophy
Rubinstein-Taybi syndrome is sporadic mutation in?
Mutation in CREBBP with broad thumbs/halluces w/ racquet nails (brachyonychia)
Subacute paronychia, usually seen in school-aged girls. Typically single digit; thumb, first finger most common; Associated with underlying inflammatory disease (atopic dermatitis, psoriasis, contact dermatitis)
Acrodermatitis enteropathica is due to mutation in?
SLC39A4 (encodes intestinal zinc-specific transporter ZIP4); Primary form is AR.
Tricoscopy of Temporal triangular alopecia?
↓ terminal hairs and ↑ vellus hairs
Atrichia with papules is related to what mutation?
Hairless (HR) gene
Hair is normal at birth, then quickly sheds after birth; follicular cysts and milia-like papules appear later
Wooly hair is seen in? Associated heart conditions?
Naxos syndrome:
PPK, wooly hair, right ventricular cardiomyopathy
Carvajal syndrome:
PPK, wooly hair, and left-sided cardiomyopathy
Hair is pale/blonde, dry, and unruly w/ shiny/“spun glass” appearance?
Uncombable hair (pili trianguli et canaliculi)
Monilethrix (beaded hair) is related to mutations in?
KRT81, KRT83, and KRT86 and desmoglein 4
Pili torti is seen in?
Menkes kinky hair syndrome
Bazex-Dupre-Christol syndrome
Rombo syndrome
Björnstad syndrome
Crandall syndrome
Most common hair shaft anomaly?
Trichorrhexis nodosa
Trichorrhexis nodosa is seen in?
Argininosuccinic aciduria
Citrullinemia
Oculo-dental-digital dysplasia Trichothiodystrophy
Netherton syndrome
Loose anagen syndrome?
Defective anchoring of the hair shaft (defective inner root sheath keratiniza- tion) to the follicle resulting in easily and painlessly plucked hair. multiple anagen hairs with ruffled cuticles and misshapen bulbs (“hockey stick”)
Extracutaneous manifestations of biotin deficiency?
Seizures, developmental delay, hypotonia, ataxia, diarrhea, metabolic ketoacidosis, hepatosplenomegaly, and optic atrophy (BTD deficiency)
Hartnup disease px?
Caused by mutations in SLC6A19
Cutaneous eruption presents in childhood as an acute photodermatitis with erythema, blistering, scaling, crusting, and scarring occurring after sun exposure in sun-exposed areas of the face, neck, arms, dorsal hands, wrists, and lower legs.
Tryptophan and nicotinic acid levels in Hartnup disease?
↓ Tryptophan → ↓ nicotinic acid and pellagra-like symptoms (e.g., photosensitivity)
Tx: avoid sunlight; oral nicotinamide supplementation
PKU enzyme deficiency?
phenylalanine hydroxylase (PAH gene) → inability to convert phenylalanine to tyrosine
Features of PKU?
Photosensitivity, eczematous dermatitis, diffuse hypopigmentation with blonde hair and blue eyes and sclerodermatous changes of the torso and thighs.
■Hypopigmentation of skin/hair 2° to inhibitory effect of ↑ phenylalanine on tyrosinase
■Musty odor of urine, short stature, and microcephaly
Mutation in homocystinuria?
Cystathionine beta-synthetase (CBS gene), AR disorder, catalyzes the formation of cystathionine from homocysteine and serine; thus deficiency → ↑ homocysteine
Hunter syndrome?
XLR disorder 2° to mutation in IDS gene (encodes the lysosomal enzyme iduronate 2-sulfatase → accumulation of glycosaminoglycans in almost all organs and tissues)
Cutaneous fx of Hunter syndrome?
Hypertrichosis, “pebbled” ivory-colored plaques between scapulae on upper back, as well as the upper arms and thighs, coarse facies (thick nose, thick lips, and tongue)
Alkaptonuria mutation?
AR disorder 2° to mutation in homogentisic 1,2-dioxygenase (HGO) gene
Alkaptonuria; Blue-gray pigmentation (ochronosis) on face, nose, ears (seen well on cartilage), and sclera. Dark sweat, cerumen, and urine (pH . 7.0; adding NaOH to urine → darkening)
Cutis laxa/Generalized elastosis most common mutation?
AD forms (less common): elastin gene (ELN) or fibulin 5 (FBLN5) mutations → dysregulation of elastic fiber network in the skin mainly
AR forms (most common): FBLN5, EFEMP2/FBLN4, LTBP4, ATPase, ATP6V0A2, PYCR1, and ALDH18A1; presents at birth to early childhood; skin 1 severe internal involvement
XLR form (occipital horn syndrome, previously Ehlers- Danlos syndrome [EDS] type IX): mutations in ATPase, Cu(21)-transporting, alpha polypeptide (ATP7A) (allelic to Menkes disease)
Wedge-shaped occipital calcifications (occipital horns) is seen in?
XLR cutis laxa (now termed occipital horn syndrome)
Drugs causing acquired cutis laxa?
Penicillamine and isoniazid
Progressed PXE, can cause perforating disease with deposition of?
↑ dermal calcium deposition and extrusion of this yellowish material through the epidermis may occur
PXE mutation?
AR disorder as a result of mutations in ABCC6
Angioid streaks (Bruch’s membrane
rupture) are seen in?
PXE
Lead poisoning
Sickle cell anemia
Thalassemia
Paget’s disease of bone
EDS
Age-related degeneration
Most prevalent ophthalmic fx in PXE?
Mottling of retinal pigment epithelium
PXE cardiac manifestations?
■ Intermittent claudication, loss of peripheral pulses, renovascular hypertension, mitral valve prolapse, angina/MI, and stroke
■ Progressive calcification of elastic media and intima → atheromatous plaques involving predominantly medium-sized arteries (esp. in extremities)
PXE GI manifestations?
Gastric artery hemorrhage, hematemesis, epistaxis
Morbidity & mortality in PSE?
2° to GI hemorrhage, cerebral hemorrhage, atherosclerotic disease, and MI
Most common and most severe form of osteogenesis imperfecta?
Types I (most common form, accounts for 50% of OI; Type II (most severe form, fatal in perinatal period); Type III: increased mortality in third/fourth decade due to respiratory failure (2° to kyphoscoliosis) or head trauma
Velvety, soft, and doughy consistency of skin, “cigarette paper” scars and “fishmouth” wounds, Piezogenic pedal papules, seen in?
Classical Ehlers Danlos Syndrome (most common subtype)
EDS musculoskeletal fx?
Musculoskeletal manifestations
○Generalized joint hypermobility
○Double-jointed fingers
○Frequent subluxation of larger joints ○Chronic joint and limb pain
○Kyphoscoliosis
○Pes planus “flat feet”
Another name for PXE?
Gronblad strandberg syndrome
Classic EDS (Type I, II), with + Gorlin sign, fish mouth and molluscoid pseudotumors, gene mutation is?
COL5A1
Vascular EDS (Type IV), gene mutation?
COL3A1
EDS type with deficiency of tenascin X?
Hypermobility EDS (formerly type III)
EDS with severe scoliosis?
Kyphoscoliotic (formerly type VI) EDS
EDS with severe periodontitis and subsequent teeth loss?
Periodontitis type, type VIII
Buschke-Ollendorff syndrome is an AD disorder with mutation in?
LEMD3
Dermatofibrosis lenticularis disseminata, seen in Buschke-Ollendorff syndrome, typically on buttocks, proximal trunk, and limbs
Bone fx in Buschke-Ollendorff syndrome?
Osteopoikilosis (“spotted bones”)
■Asymptomatic circular densities in carpal bones, tarsal bones, phalanges of hands and feet, pelvis, and epiphyses and metaphyses of long bones
■Often noted incidentally on plain films
Small pearly papules on ears and face, gingival hypertrophy, thickened skin and hyperpigmentation overlying bony prominences, is characteristic of?
Infantile systemic hyalinosis
Cause of death in infantile systemic hyalinosis?
Recurrent pulmonary infection and GI complications death by age of 2
Thickened “woody” tongue; inability to protrude tongue (due to shortened frenulum)?
Lipoid proteinosis
Histology of Lipoid proteinosis?
Histology: deposition of amorphous or laminated basement membrane-like material containing collagen (types II and IV) and laminin around blood vessels, dermal-epidermal junction, adnexal epithelia, and in connective tissues (appears as vertically oriented pink dermal deposits). Deposits are PAS-positive and diastase-resistant
Cutis verticis gyrata. Thick furrowing of skin on scalp (vertex) +/- neck, due to increased dermal collagen;
Cutis verticis gyrata is associated with?
Primary is associated with pachydermoperiostosis (cutis verticis gyrata, clubbing, periostosis of long bones); also seen in Turner, Noonan syndromes
* Secondary: manifestation of hyperpituitarism
Goltz syndrome is AKA?
Focal dermal hypoplasia
Goltz inheritance and gene mutation:
X-linked dominant (XLD)
PORCN (porcupine) gene mutation - regulator of Wnt signaling proteins, which are critical for embryonic development of skin, bone, teeth, and other structures.
Focal dermal hypoplasia (Goltz
syndrome, Goltz-Gorlin syndrome)
Ectrodactyly (lobster claw
deformity)
Enamel hypoplasia
Colobomas of iris/choroid/retina/optic disc
Osteopathia striata: vertical striations in long bone metaphyses on X-ray
Blaschkoid areas of
hypoplasia/atrophy of the skin, with telangiectasias
Features of Congenital contractual arachnodactyly?
Due to fibrillan-2 gene mutation; Characteristic facial features:
■ High forehead
■ Down-slanting palpebral fissures
■ Hypertelorism
■ Anteverted nostrils
■ Low-set and abnormal auricles
■ Retromicrognathia
■ Short neck
Same as Marfan, MVP and aortic root dilation
AR disorder as a result of mutations in lamin-A (LMNA) or zinc metalloproteinase STE24 (ZMPSTE24) → ↑ prelamin A (accumulates in the nucleus → nuclear membrane toxicity)?
Restrictive dermopathy (tight skin contracture syndrome).
Contrast with, Stiff skin syndrome, FBN1 (fibrillin-1), joint contractures (tight skin syndrome have flexion contractures)
What are pro-inflammatory cytokines?
IFN-a, IFN-g, IL-6, IL-1, and TNF-a
Widespread urticaria and hearing loss, think of?
Autoinflammatory, Muckle-Wells syndrome, CIAS-1/NLRP3. They’ll have abdominal pain, “lancing” extremity pain, conjunctivitis, hearing loss.
What type of amyloidosis is associated with Muckle-Wells syndrome?
High risk of secondary AA amyloidosis (25%).
Febrile attacks, deforming arthropathy, blindness, hearing loss, aseptic meningitis is likely?
Neonatal-onset multisystem inflammatory disease (NOMID) due to CIAS-1/NLRP3 mutation
Hyper-IgD syndrome deficiency?
MVK (mevalonate kinase)
Painful migratory/serpigi-
nous plaques (often edematous) on extremities and Secondary AA amyloidosis, think of?
TNF-receptor-associated periodic syndrome (TRAPS)
Skin lesions in familial Mediterranean fever (FMF)?
Erysipelas-like rash that favours the
legs
Example of an auto inflammatory, granulomatous disorder?
Blau syndrome/early- sarcoidosis; NOD2/CARD15 mutation. Presents with sarcoidal granulomatous dermatitis, ichthyosiform dermatitis
What is CANDLE?
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. Characterized by daily fever, recurrent annular plaques, lipodystrophy and arthralgia’s.
Pathergy test positive in?
Sweet’s syndrome, IBD, Behcet, Pyoderma gangrenosum, healthy
Acral vasculopathy with violaceous plaques of cold exposed acral
surfaces, ears, and nose?
STING-associated vasculopathy with onset in infancy (SAVI) syndrome will have severe interstitial lung disease.
Chilblains-like lesions and acrocyanosis especially of cold exposed areas of fingers, toes, ears and variable neurodevelopmental abnormalities including encephalopa- thy,
Aicardi-Goutières, a pediatric autoinflammatory syndrome
What’s the function of Neurofibromin (NF1)?
Neurofibromin is a cytoplasmic protein that negatively regulates Ras activation
Diagnostic criteria for NF1?
Plexiform neurofibroma: overlying CALMs and/or hypertrichosis; “bag of worms” texture (seen in 25% of NF1 patients)
Cutaneous findings in TSC?
Adenoma sebaceum (facial angiofibromas), hypopigmented “ash-leaf” macules (confetti pattern pretibially; first cutaneous finding), Shagreen patch (collagen connective tissue nevus), periungual fibromas (“Koenen tumors”), and CALMs.
Name 6 minor criteria for TSC diagnosis?
3 Dental enamel pits
2 Intraoral fibromas
“Confetti”-like skin lesions
Nonrenal hamartomas
Multiple renal cysts
Retinal achromic patch
In TSC, what are neurological fx?
Cortical tubers, subependymal nodules (may → hydrocephalus), subependymal giant cell astrocytomas, seizures/infantile spasms, hypsarrhythmia, intellectual impairment, and paraventricular calcification
Dental findings in TSC:
pits in enamel and gingival fibromas
When do ungual fibromas and intramural fibromas appear in TSC?
Ungual fibromas occur in adolescence and intraoral fibromas in adulthood
Incontinentia pigmenti. The lesions of incontinentia pigmenti tend to follow a curvi-linear pattern along lines of Blaschko, lines of the embryological development of ectoderm, as a manifestation of functional mosaicism (i.e., the X chromosome with the mutation in the NEMO gene is the activated X chromosome in the skin at these sites). The lesions of the vesicular phase may range from largely papular with a minor vesicular component to vesiculopustular as shown here and occasionally to bullous.
What are the 4 stages of incontinentia pigment?
Vesicular
Verrucous
Hyperpigmented
Hypopigmented
“VVHH”
Multiple BCCs, hypotrichosis, hypohidrosis, follicular atrophoderma (circumscribed areas on dorsal hands and feet)?
Bazex syndrome
Teeth in incontinenta pigmenti?
Pegged or conical teeth, and anodontia (dental = most common extracutaneous feature)
Hutchinson-Gilford progeria?
AD disorder in the LMNA gene (encodes lamin A). Cutaneous manifestations begin around 6 to 18 months: Localized sclerodermatous changes of lower trunk, cyanosis around mouth, dyspigmentation. Over time, patients show signs of premature aging, early skin wrinkling and xerosis, hair loss, skin atrophy with prominent veins and bone density loss.
Cutaneous manifestations of Bloom syndrome?
Photosensitivity, telangiectatic erythema in a malar distribution, cheilitis, CALM, and hypopigmentation.
Dark brown adherent scales on extremities, spares flexures, comma-shaped corneal opacities, mutated?
STS; Steroid sulfatase deficiency (X-linked recessive ichthyosis)
KID syndrome presents with transient neonatal erythroderma; erythematous, hyperkeratotic plaques w/ well-demarcated, borders on face and extremities; follicular keratoses; thickening of the skin with an appearance of “coarse-grained leather;” stippled palmoplantar keratoderma.
At birth, ichthyosiform erythroderma (generalized, vs. unilateral in CHILD syndrome) with feathery, adherent scale along Blaschko’s lines; erythema resolves in first few months
of life (unlike CHILD syndrome) and is replaced by follicular atrophoderma along Blaschko’s lines, most prominently on the forearms and dorsal hands?
Conradi-Hünermann- Happle syndrome (X-linked dominant chrondrodysplasia punctata)
Actinic prurigo is common in?
Native American children*
Female > male
Onset <10 yrs of age
Flares in spring, persists during summer, improves in fall, doesn’t remit completely in winter. Dyspigmentation and scarring are common (vs.polymorphous light eruption [PMLE])
Nonepidermolytic PPK?
Unna-Thost (KRT1)
Naxos (Diffuse NEPPK with woolly hair and right cardiomyopathy)
Purple red nodules, often appearing after use of high-potency topical steroids or prolonged use of cloth diapers (nonabsorbent)?
Granuloma gluteale infantum
Severe erosive dermatitis with ulcerated papules and nodules; presents more
pinpoint than other erosive diaper dermatoses?
Jacquet’s erosive dermatitis
Pear-shaped nose with a rounded tip, long philtrum; and thin upper lip, sparse hair, with possible total alopecia, mainly in males?
Trichorhinophalangeal syndrome (TRPS1 gene)
H syndrome mutation?
AR, SCL29A3 (nucleoside transporter). Hyperpigmentation, Hypertrichosis with induration and varicose veins characteristically of the thighs sparing knees, Hallux valgus with flexion contracture of toes, Hepatosplenomegaly, Heart abnormalities, Hypogonadism, decreased Height, Hyperglycemia, DM.
A single yellow-tan plaque-like
nodule with an overlying peau d’orange appearance is likely?
Solitary mastocytoma
What is px on basal layer of mastocytosis?
Eosinophils and hyperpigmentation of the basal layer may be present
“Statue of Liberty sign”
Unilateral erythematous macules and papules with flexural predominance, classically beginning in axilla and lateral trunk
Seen in: Unilateral laterothoracic exanthem
Most common occulocutaneous albinism?
OCA Type 2
↑ Risk of basal cell carcinoma (BCC), squamous cell carcinoma (SCC; most common type of skin cancer in these patients), and melanoma (worse in OCA1)
Reticulate acropigmentation of Kitamura mutation?
ADAM10 - encodes a disintegrin and metalloproteinase 10
Presents by 6 years of age with dyschromia and hyperpigmented or hypopigmented macules restricted to sun-exposed skin on the dorsal aspects of the extremities and face is?
Dyschromatosis symmetrica hereditaria
(acropigmentation of Dohi)
Mainly in Japanese or Chinese
Mutation in SRAD
Mutation in ABCB6?
Dyschromatosis universalis hereditaria
Herlitz JEB, and, non-Herlitz JEB, mutations?
Herlitz JEB, Laminin 332
Non-Herlitz JEB, Laminin 332 (+ COL 17)
Major criteria for Cowden’s syndrome?
BCC’s, Palmoplantar pits, odontogenic keratocysts of the jaw, calcification of the fall cerebri, 1st degree relative with BCNS
Most common malignancy in Cowden’s?
Breast adenocarcinoma
Enometrial carcinoma
Follicular carcinoma is the most common type for thyroid fx’s
Follicular atrophoderma is assoc. with?
Bazex-Dupre-Christol syndrome
Klippel-Trenaunay syndrome mutation?
PIK3CA
Anterior linear earlobe creases and posterior helical ear pits is associated with what syndrome?
Beckwith-Wiedemann syndrome
Microkeratocysts of the mouth that form along embryonic lines of fusion?
Bohn’s nodules/Epstein pearls
