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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

25
X linked icthyosis - skin features
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
X linked ichthyosis non skin features
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
When is epidermolytic hyperkeratosis seen?
Bullous congenital ichthyosiform erythroderma. Some linear and systematised epidermal naevi (verrucous) Epidermolytic acanthoma Incidental Epidermoltyic leukoplakia
28
BCIE genes
AD, complete penetrance, 50% new mutations Heterozygous mutations in KRT1 and 10: - KRT1: severe PPK - KRT10: spare PP
29
Causes of Neonatal erythroderma
- CIE - CHILD (unilateral) - Conradi-Hunermann-Happle (blaschkoid) - Neutral lipid storage disease - Netherton - Sjogren-Larsson - Trichothiodystrophy - KID - Maybe: BIE, lamellar ichthyosis
30
Neonatal bullae/blisters/erosions
- Epidermolytic hyperkeratosis (BIE) | - Superficial epidermolytic ichtyosis (ichthyosis bullosa of siemans)
31
Neonatal peeling/exfoliation
- Epidermolytic hyperkeratosis (BIE) - Superficial epidermolytic ichtyosis (ichthyosis bullosa of siemans) - Nethertons - Peeling skin syndromes SSSS, EBA
32
Superficial epidermolytic ichthyosis = ichthyosis bullosa of siemens Gene and inheritance
autosomal dominant ichthyosis | - Heterozygous mutation in gene for keratin 2 in uppermost spinous and granular layer
33
Trichothiodystrophy with ichthyosis features
- AR - Brittle hair, trichorrhexis nodosa, short stature and mental retardation Photosensitivity Due to low sulphur
34
What is a transgrediens form of isolated PPK
Greither's
35
Difference between vorners and unna-thost
Vorners + EHK | Unna-Thost not
36
Types of isolated diffuse PPK - inherited
Non transgrediens Unna Thost – non epidermolytic Vorner – epidermolytic Transgrediens Greither type: transgrediens and progrediens
37
Types of syndromic diffuse inherited PPK
``` 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
Types of acquired PPK diffuse
``` Common Keratoderma climactericum Fungal Eczema LP Psoriasis Aquagenic ``` ``` Uncommon SLE PRP Reiters AN Infection (scabies/syphilis) Neoplasia (MF/Sezary/Basex) ```
39
Types of focal/punctate acquired PPK
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
Types of isolated hereditary focal PPK
Epidermatolytic hyperkeratosis: Hereditary painful callosities Non-epidermatolytic hyperkeratosis: Siemans
41
Types of hereditary focal PPK that are associated with syndromes
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
Types of hereditary PPK punctate - associated with syndromes
``` CD GAS Cowden Darier Gardiner Acrokeratosis verruciformis Schopf-Schultz-Passarge ```
43
Types of isolated hereditary punctate PPK
Buschke-Fischer-Brauer Acrokeratoelastoides Focal acral hypereratosis Spiny keratoderma
44
Mx of PPKs
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
What is the type of mutilating PPK - hereditary diffuse type
Greithers = Syberts
46
which PPK classically has Honeycomb Keratoderma Starfish keratoses Pseudoainhum
Vohwinkel - diffuse PPK
47
Which diffuse PPKs are associated with deafness
Vohwinkel Bart-pumphrey PPKD with sensorineural deafness
48
``` Which genoderm: PPK Apocrine hidrocystomas Hypodontia, hypotrichosis SCC ```
Schopf-schulz-passarge
49
Which PPK has dendritic corneal ulcers and progressive mental impairment
Tyrosinaemia = Richner-Hanhart
50
Synonym for papillon-lefevre
keartoderma with periodontiis
51
what is haim-munk syndrome
papillon lefevre + onychogryphosis, arachnodactylyl and acroosteolysis
52
2 PPKs associated with cardiac disease
Naxos - diffuse Carvajal: striate Both with woolly hair
53
PC1
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
PC2
``` less severe PPK than type 1 hoarseness but no mucosal lesions natal teeth unruly hair and milia steatocystoma, epidermoid cysts ```
55
Types of porokeratoses
DSAP, DSP, porokeratosis of mibelli, giant, palmoplantar porokeraosis of mantoux, linear.
56
Associations of KP
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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