Chapter 11 part 2 Flashcards
Pappillon-Lefevre syndrome morphology
- Palmoplantar keratoderma + Destructive Peridontitis [ severe gingivitis w loss of alveolar bone
- Well demarcated, erythematous, hyperkeratotic lesions on palms/ soles
- May extend to DORSAL palms/soles (Stocking Glove Distribution—Similar to mal de Meleda)
+/- Hyperkeratosis on elbows, knees, & Achilles tendon
+/- transverse grooves in nails
Other findings with papillon-lefevre syndrome?
- Acro-osteolysis
- Pyogenic liver abscesses
- asymptomatic ectopic calcifications in choroid plexus and tentorium
Histopath for Papillon lefevre syndrome
- psoriasiform pattern
- workup shows mutations in cathepsin C gene
- —-(late onset does not show mutation)—–
Treatment of Papillon Lefevre syndrome
Acitretin
Etretinate
ISTN
Who is affected by Papillon Lefevre syndrome
Autosomal recessive, during childhood
Early onset of gingivitis d/t alterations in polymorphonuclear leukocyte fxn caused by Actinomyces actinomycetemcomitans
What is Haim-munk syndrome
Autosomal recessive dz linked to Cathepsin C gene mutations with
- periodontal dz
- keratoderma
- onychogrphosis (Ram’s horn nails)
Striate Keratodermas 4 key points
- streaking hyperK on fingers and palms
- Autosomal Dominant
- assoc w Rubinstein-Taybi syndrome
- mutations in desmoglein 1 (heteozygous C to A transversion involving desmoglein 1)
Richner-Hanhart synd is?
Corneal opacities + keratosis palmoplantaris
Richner Hanhart syndrome age?
skin manifestations occur after the first year
-related to defects in tyrosine aminotransferase (in liver)
Newborn screening allows for early intervention and dietary restriction for what disorder?
Richner-Hanhart syndrome
What disorder may be a marker for cystic fibrosis?
Acquired aquogenic syringeal acrokeratoderma
also reported in pts with ASA or Rofecoxib (NSAID)
Describe morphology for Acquired aquogenic syringeal acrokeratoderma
white papules on palms (sharply demarcated +/- central pore)
3-5m AFTER WATER EXPOSURE –> resolve when dry
Acquired aquagenic syringeal acroderma is aka and affects?
aquagenic wrinkling of the palms
- Autosomal dominant
- abnormal AQPS sweat glands
Pityriasis Rubra Pilaris morphology?
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
Who is affected by PRP?
Highest incidence of onset during first 5 years of life OR between 51-55 (BIMODAL)
Either gender
PRP treatment?
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
Pityriasis Rubra Pilar location?
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…
Key point abt PRP
Diagnosis not difficult d/t distinctive features—such as
- peculiar orange salmon-yellow color of the follicular papules, containing a horny center
- location on backs of fingers, sides of neck, and extensor surfaces of the limbs
- The thickened, rough, & moderately scaly, harsh skin
- Sandal like palmoplantar hyperkeratosis and the islands of normal skin in midst of the eruption
Griffiths Classification
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)
Assoc dz with PRP?
- hypothyroidism
- hypoparathyroidism
- combo of Sacroiliitis + autoimmune thyroiditis
