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Genodermatoses Melissa > Ichthyoses > Flashcards

Ichthyoses Flashcards

1
Q

Inheritance of non bullous ichthyosiform erythroderma

A

AR

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2
Q

Clinical difference between lamellar ichthyosis and nbcie

A

Lamellar more scaly

Nbie more erythrodermic and milder

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3
Q

When does a colloidal membrane resolve and likelihood of ichthyosis

A

2-3 weeks, 60% chance (usually lamellar)

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4
Q

Calms syndromes

A

Nf1 and 2

Mccune Albright, cowdens, blooms, AT, menII, turners, ts, piebaldism

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5
Q

OCA1 defect and phenotype vs OCA2

A

1: No tyrosinase activity
White hair, white skin, pink or blue eyes

2,3,4: reduced tyrosinase activity variable severity

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6
Q

Hermansky pudlak syndrome features

A

Oculocutaneous albinism, platelet dysfunction, immunodeficiency. Due to an abnormality in lysosomal function

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7
Q

Chediak-higashi features

A

Immunodeficiency, bleeding defect, partial albinism. Lysosomal regulating defect

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8
Q

Griscelli syndrome features

A

Immunodeficiency , albinism, often fatal. Defect in microtubule transportation

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9
Q

Waardenburg syndrome

A

White forelock, deafness, neural crest abnormalities, albinism

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10
Q

Inheritance of lamellar ichthyosis

A

AR

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11
Q

Next investigation after a baby has hyperkeratosis in a linear or whorled pattern

A

Bony xray - looking for epiphyseal stippling. (Conraid-Hunermann syndrome)

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12
Q

Ix for conradi-hunermann

A

Bony xray - stippling

neonatal skin bx: may show calcium in the epidermis with von kossas stain

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13
Q

tx of conradi-hunermann

A

refer ophthal - cataracts
ortho: asymmetric limb shortening, short stature, scoliosis, stippled epiphyses
examine first degree relatives.

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14
Q

CHILD syndrome

A

CHILD – congenital hemidysplasia, with ichthyosiform erythroderma and limb defects

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15
Q

Gene in CHILD syndrome

A

X linked dominant

NSDHL gene on Xq 28, Conradi’s gene: EBP has been described. Both involved in cholesterol biosynthesis

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16
Q

Most common DDx

A

Conradi-Hummerman-Happle

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17
Q

Mendes de Costa AKA

A

Erythrokeratoderma variabilis

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18
Q

Mendes de Costa gene and inheritance

A
  • AD
    GJB3 encoding connexin 31
    GJB4 encoding connexin 30.3
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19
Q

Which ichthyosis has a high risk of : SCC of skin, tongue, proliferating pilar tumours (benign or malignant), epidermoid or pilar cysts

A

KID syndrome

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20
Q

Hailey Hailey

Inheritance and gene

A
  • AD, ATP2C1, interfering with intercellular Ca signalling
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21
Q

Clinical features of Hailey-Hailey

A

Flaccid blisters and erosions on neck and intertriginous areas, esp axilla and groin.
Moist malodours vegetations and fissures, worse in summer
Segmentation variants can occur
Nails: longitudinal leukonychia

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22
Q

Collodion babies – causes

A

Congenital ichthyosiform erythroderma
Lamellar ichthyosis
Self healing collodion baby

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23
Q

X linked dominant ichthyosiform disorders

A

CHILD, Conradi-hunermann-happle

24
Q

t/F Ichthyosis vulgaris is usually present at birth

A

F

25
Q

X linked icthyosis - skin features

A

Appears 2-6 weeks old
90% neonatal with mild erythrodema, peeling
Polygonal, dark brown scales during infancy – extremities, trunk and neck
Dirty neck
Fine scaly of scalp in infancy, Palms, soles and face spared except preauricular area
Unlike ichthyosis vulgaris does not significantly subside with age

26
Q

X linked ichthyosis non skin features

A

Males 20 x increase in cryptorochidism and independent of maldescent, increased risk of testicular Ca and hypogonadism

Labour: failure to progress

Eyes: comma shaped corneal opacities – asymptomatic (50% of adult males, some female carriers)
Rarer : deuteranopia (green colour blindness)

27
Q

When is epidermolytic hyperkeratosis seen?

A

Bullous congenital ichthyosiform erythroderma.
Some linear and systematised epidermal naevi (verrucous)
Epidermolytic acanthoma
Incidental
Epidermoltyic leukoplakia

28
Q

BCIE genes

A

AD, complete penetrance, 50% new mutations
Heterozygous mutations in KRT1 and 10:
- KRT1: severe PPK
- KRT10: spare PP

29
Q

Causes of Neonatal erythroderma

A
  • CIE
  • CHILD (unilateral)
  • Conradi-Hunermann-Happle (blaschkoid)
  • Neutral lipid storage disease
  • Netherton
  • Sjogren-Larsson
  • Trichothiodystrophy
  • KID
  • Maybe: BIE, lamellar ichthyosis
30
Q

Neonatal bullae/blisters/erosions

A
  • Epidermolytic hyperkeratosis (BIE)

- Superficial epidermolytic ichtyosis (ichthyosis bullosa of siemans)

31
Q

Neonatal peeling/exfoliation

A
  • Epidermolytic hyperkeratosis (BIE)
  • Superficial epidermolytic ichtyosis (ichthyosis bullosa of siemans)
  • Nethertons
  • Peeling skin syndromes

SSSS, EBA

32
Q

Superficial epidermolytic ichthyosis = ichthyosis bullosa of siemens
Gene and inheritance

A

autosomal dominant ichthyosis

- Heterozygous mutation in gene for keratin 2 in uppermost spinous and granular layer

33
Q

Trichothiodystrophy with ichthyosis

features

A
  • AR
  • Brittle hair, trichorrhexis nodosa, short stature and mental retardation

Photosensitivity
Due to low sulphur

34
Q

What is a transgrediens form of isolated PPK

A

Greither’s

35
Q

Difference between vorners and unna-thost

A

Vorners + EHK

Unna-Thost not

36
Q

Types of isolated diffuse PPK - inherited

A

Non transgrediens
Unna Thost – non epidermolytic
Vorner – epidermolytic

Transgrediens
Greither type: transgrediens and progrediens

37
Q

Types of syndromic diffuse inherited PPK

A 
Associated ectodermal features 
OMUNCH
Olmsteds
Mal de meleda
(U) Vohwinkel
NFJ
Clouston
Huriez
Syndrome with PPK as a feature
DICE
Dyskeratosis congenital
Ichthyoses
Cardiac (naxos)
Erythrokeratodermas
38
Q

Types of acquired PPK diffuse

A 
Common 
Keratoderma climactericum
Fungal
Eczema
LP
Psoriasis 
Aquagenic
Uncommon
SLE
PRP
Reiters
AN
Infection (scabies/syphilis)
Neoplasia (MF/Sezary/Basex)
39
Q

Types of focal/punctate acquired PPK

A

CLAW DRIP

Callosities
LP/LE
Arsenical keratoses
Warts

Drug
Reiters
Infection: Yaws/syphilis
Psoriasis/Porokeratosis

Drug induced: lithium, iodine, verapamil, venlafaxine, imatinib, capecitabine, fluvax, tnf inhibitors, BRAF inhibitor

40
Q

Types of isolated hereditary focal PPK

A

Epidermatolytic hyperkeratosis:
Hereditary painful callosities
Non-epidermatolytic hyperkeratosis:
Siemans

41
Q

Types of hereditary focal PPK that are associated with syndromes

A

CHOP PTS
Carvajal: striate PPK with wooly hair and cardiomyopathy
Howell Evans: non epidermolytic PPK with ca oesophagus
Richner-Hanhart: oculocutaneous tyrosinaemia
PC6a/16 type 1 Jadassohn-Lewandowsky
PC6b/17 type 2 Jackson
Tylosis
Spastic paraplegia

42
Q

Types of hereditary PPK punctate - associated with syndromes

A 
CD GAS
Cowden
Darier
Gardiner
Acrokeratosis verruciformis
Schopf-Schultz-Passarge
43
Q

Types of isolated hereditary punctate PPK

A

Buschke-Fischer-Brauer
Acrokeratoelastoides
Focal acral hypereratosis
Spiny keratoderma

44
Q

Mx of PPKs

A

General Minimise trauma, reduce activity, manual work
Consider podiatry, orthotics
Genetics Counselling

Topical Urea
Sal acid, lactic acid, retinoids, propylene glycol
Steroids, calcipitriol

Oral Acitretin – care in BCIE

Physical PUVA

Surgery Graft, z-plasty

Other Tx coexistant infection
Whitfields, antifungals, antibacterials, Drichlor
Diet restriction (RH)
Rx neoplasms

45
Q

What is the type of mutilating PPK - hereditary diffuse type

A

Greithers = Syberts

46
Q

which PPK classically has Honeycomb Keratoderma
Starfish keratoses
Pseudoainhum

A

Vohwinkel - diffuse PPK

47
Q

Which diffuse PPKs are associated with deafness

A

Vohwinkel
Bart-pumphrey
PPKD with sensorineural deafness

48
Q 
Which genoderm: 
PPK
Apocrine hidrocystomas
Hypodontia, hypotrichosis
SCC
A

Schopf-schulz-passarge

49
Q

Which PPK has dendritic corneal ulcers and progressive mental impairment

A

Tyrosinaemia = Richner-Hanhart

50
Q

Synonym for papillon-lefevre

A

keartoderma with periodontiis

51
Q

what is haim-munk syndrome

A

papillon lefevre + onychogryphosis, arachnodactylyl and acroosteolysis

52
Q

2 PPKs associated with cardiac disease

A

Naxos - diffuse
Carvajal: striate
Both with woolly hair

53
Q

PC1

A

K6a/16
Jadassohn-Lewandowsky
wedge like thickening of distal finger and toenails, KP and follicular keratosis on knees and elbows. Oral lesions look like candida. Laryngeal involvement may produce hoarseness. SCC

54
Q

PC2

A 
less severe PPK than type 1
hoarseness but no mucosal lesions
natal teeth
unruly hair and milia
steatocystoma, epidermoid cysts
55
Q

Types of porokeratoses

A

DSAP, DSP, porokeratosis of mibelli, giant, palmoplantar porokeraosis of mantoux, linear.

56
Q

Associations of KP

A

Obesity, diabetes
Ichthyosis vulgaris
Noonans and cardio-facial-cutaneous syndromes, prolidase deficiency, renal insuffiecenty, downs.
Overlaps with trichostasis spinulosa in Fairbanks and olmesteds.
Lithium, graham-little, steroid use

Genodermatoses Melissa (7 decks)

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