Chapter 11 part 2

Question 1

Pappillon-Lefevre syndrome morphology

Answer 1

1. Palmoplantar keratoderma + Destructive Peridontitis [ severe gingivitis w loss of alveolar bone
2. Well demarcated, erythematous, hyperkeratotic lesions on palms/ soles
3. May extend to DORSAL palms/soles (Stocking Glove Distribution—Similar to mal de Meleda)

+/- Hyperkeratosis on elbows, knees, & Achilles tendon
+/- transverse grooves in nails

Question 2

Other findings with papillon-lefevre syndrome?

Answer 2

1. Acro-osteolysis
2. Pyogenic liver abscesses
   - asymptomatic ectopic calcifications in choroid plexus and tentorium

Question 3

Histopath for Papillon lefevre syndrome

Answer 3

• psoriasiform pattern
• workup shows mutations in cathepsin C gene
• —-(late onset does not show mutation)—–

Question 4

Treatment of Papillon Lefevre syndrome

Answer 4

Acitretin
Etretinate
ISTN

Question 5

Who is affected by Papillon Lefevre syndrome

Answer 5

Autosomal recessive, during childhood

Early onset of gingivitis d/t alterations in polymorphonuclear leukocyte fxn caused by Actinomyces actinomycetemcomitans

Question 6

What is Haim-munk syndrome

Answer 6

Autosomal recessive dz linked to Cathepsin C gene mutations with

1. periodontal dz
2. keratoderma
3. onychogrphosis (Ram’s horn nails)

Question 7

Striate Keratodermas 4 key points

Answer 7

1. streaking hyperK on fingers and palms
2. Autosomal Dominant
3. assoc w Rubinstein-Taybi syndrome
4. mutations in desmoglein 1 (heteozygous C to A transversion involving desmoglein 1)

Question 8

Richner-Hanhart synd is?

Answer 8

Corneal opacities + keratosis palmoplantaris

Question 9

Richner Hanhart syndrome age?

Answer 9

skin manifestations occur after the first year

-related to defects in tyrosine aminotransferase (in liver)

Question 10

Newborn screening allows for early intervention and dietary restriction for what disorder?

Answer 10

Richner-Hanhart syndrome

Question 11

What disorder may be a marker for cystic fibrosis?

Answer 11

Acquired aquogenic syringeal acrokeratoderma

also reported in pts with ASA or Rofecoxib (NSAID)

Question 12

Describe morphology for Acquired aquogenic syringeal acrokeratoderma

Answer 12

white papules on palms (sharply demarcated +/- central pore)
3-5m AFTER WATER EXPOSURE –> resolve when dry

Question 13

Acquired aquagenic syringeal acroderma is aka and affects?

Answer 13

aquagenic wrinkling of the palms

• Autosomal dominant
• abnormal AQPS sweat glands

Question 14

Pityriasis Rubra Pilaris morphology?

Answer 14

papules are most impt diagnostic feature

• goose flesh (hair embedded in horny center)
• nutmeg grater (juvenile type, plaques on extensor surfaces)
• checkerboard pattern on histology
• vitamin A deficiency disorder

+/- arthritis, assoc malignancy, Koebner phenomenon

Question 15

Who is affected by PRP?

Answer 15

Highest incidence of onset during first 5 years of life OR between 51-55 (BIMODAL)

Either gender

Question 16

PRP treatment?

Answer 16

System Retinoids or Top Tazarotene

• Isotretinoin 0.5-1 mg/kg/day
• Acitretin 10-75 mg
• MTX 2.5-30 mg (alone or in combo c oral retinoids)

UV light (can flare some patients) but treats others 
-PUVA
-UVA1
-NBUVB
(alone or in combo c retinoids)

Extracorpeal photochemotherapy
Cyclosporine
Anti-TNF
Ustekinumab
Azathioprine

Topical calcineurin inhibitors, lactic acid, or urea-containing preperations

Systemic steroids ONLY FOR ACUTE USE

In HIV related disease - Multiagent antiviral therapy

As a rule—responses to top. steroids are not very effective

Question 17

Pityriasis Rubra Pilar location?

Answer 17

Starts on sides of neck and trunk and the extensor surfaces of the extremities (especially back of the 1st and 2nd phalanges)
palms, soles, nails, extensor surfaces…

Question 18

Key point abt PRP

Answer 18

Diagnosis not difficult d/t distinctive features—such as

1. peculiar orange salmon-yellow color of the follicular papules, containing a horny center
2. location on backs of fingers, sides of neck, and extensor surfaces of the limbs
3. The thickened, rough, & moderately scaly, harsh skin
4. Sandal like palmoplantar hyperkeratosis and the islands of normal skin in midst of the eruption

Question 19

Griffiths Classification

Answer 19

used to classify PRP based on childhood vs adulthood.

Type 1 (Classic Adult Type): MC and best prognosis; 80% involute over 3 years

-Type 3 (Classic Juvenile Type): Disease clears in 1 year but may recur into adulthood

-Atypical Adult Type
-Atypical Juvenile Type
-Circumbscribed Juvenile-Onset
(These 3 account for up to 35% of cases and carry a poorer prognosis for spontaneous recovery)

Question 20

Assoc dz with PRP?

Answer 20

1. hypothyroidism
2. hypoparathyroidism
3. combo of Sacroiliitis + autoimmune thyroiditis