PPK

Question 1

Vorner mutation and features

Answer 1

KRT1 and 9, AD
Epidermolytic hyperkeratosis
Diffuse compact yellow hyperkeratosis
No transgrediens

Question 2

Greither

Answer 2

Like Vorner but has transgrediens

Worsens with age

Question 3

Mal de Meleda

Answer 3

SLURP1 mutation
Diffuse palmoplantar hyperkeratosis
Transgrediens
Pseudoainhum
Nails can have koilonychia and subungual hyperkeratosis

Question 4

Nagashima

Answer 4

AR in SERPINB7 mutation
Common in Asians
Diffuse PPK with transgrediens
Whitish spongy appearance with water

Question 5

Bothnia

Answer 5

AQP5, AD - water channel protein aquaporin

Same as Nagashima - mild transfrediens, redness and hyperkeratosis

Question 6

Pachyonychia congenita

Answer 6

AD, mutations keratins 6a, 6b, 6c, 16 and 17
Three cardinal:
1. Toenail dystrophy - omega shaped, subungual hyperkeratosis
2. Focal keratoderma, can be transgrediens
3. Plantar pain
Other: oral leukokeratosis, natal teeth, pili torti, follicular keratoses on knees and elbows, steatocystomas, vellus hair cysts, pilosebaceous cysts
Laryngeal - hoarsness and RT obstruction
Rx: the usual - botox, retinoids, mechanical, surgical
emergin: small interfering RNAs, sirolimus, simvastatin

Question 7

Palmoplantar pits ddx

Answer 7

Gorlins
Dariers
Punctate PPK
Cowdens
Porokeratotic adnexal ostial naevus
Acquired: pitted keratolysis, punctate porokeratoses, Dupuytrens

Question 8

Vohwinkel

Answer 8

GJB2, AD
Honeycombe ppk, starfished hyperkeratotic plaques on knuckles
Transfrediens
Pseudoainhum
HEARING LOSS

Question 9

KID syndrome

Answer 9

GJB2 mutation
Keratitis, ichthyosis, deafness
Ichthyosiform erythroderma
Recurrent fungal infections, corneal redness, alopecia, nail dystrophy
Incr risk SCC

Question 10

Bart Pumphrey

Answer 10

GJB2, AD
Diffuse, focal or punctate PPK
Congenital deafness
Honeycomb like PPK
Knuckle pads - nodular or plaque like skin thickenings over the MCP and PIP

Question 11

Loricrin keratoderma

Answer 11

AD, LOR mutation
Severe mutilating PPK as seen in Vohwinkel and generalized icthyosis
Can have colloidon baby
PPK: honeycomb pattern, kncukle pads, warty keratoses

Question 12

KLICK syndrome

Answer 12

keratosis linearis with ichthyosis congenita - POMP, AR
can develop transgrediens
ichthyosis
SCC

Question 13

Papillon lefevre

Answer 13

CTSC mutation
Diffuse PPK with transgrediens
Early onset periodontitis
Recurrent infections - cutaneous and systemic
Acral melanoma and SCC

Question 14

Carvajal

Answer 14

DSP mutation, autosomal recessive
Cardiac: left ventricular cardiomyopathy
Striate PPK
Woolly hair

Question 15

Naxos

Answer 15

JUP mutation, AR
Diffuse NEPPK
Woolly scalp hair
RV cardiomyopathy - sudden death

Question 16

Syndromic things to look for

Answer 16

Ichthyosis
Deafness
Malignancy - SCC, melanoma, oesophageal cancer
Cardiac
Ectodermal dysplasia

Question 17

Clouston syndrome

Answer 17

AD, GKB6 mutation
Mod-severe diffuse PPK
Pebbled appearance on dorsa of digits, knees and elbows
Progressive hypotrichosis
Nails: become thick and dystrophic
NO DEAFNESS - different to KID

Question 18

Tylosis/Hwoel-Evans

Answer 18

AD, RHBDF2 mutation
Focal PPK
Incr risk of oesophgeal cancer
Oral leukoplakia

Question 19

Olmsted

Answer 19

Mutilating transgrediens PPK
Diffuse alopecia
Nail dystrophy
Oral leukokeratosis
Corneal dystrophy
Deafness
SCC and melanoma

Question 20

Ddx for diffuse syndromeic PPK

Answer 20

Loricrin
Hearing loss: Vohwinkels, Mitochondrial, Bart Pumphrey
Cardiac - Naxos
Hidrotic ectodermal dysplasia
Olmsted
Papillon lefevre
Schop schulz passarge
Sclerosing: Huriez, KLICK, Sex reversal

Question 21

Ddx for isolated diffuse PPK

Answer 21

Non-trans: Bothnia, Nagashima, EHK: Unna thost, Vorners

Transgrediens: Greithers, Mal de Meleda