Difference between revisions of "Bullous diseases"

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(+Grover)
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*Desmoglein 1, desmoglein 3 - abnormal.
*Desmoglein 1, desmoglein 3 - abnormal.


==Hailey-Hailey disease==
==Familial benign pemphigus==
*[[AKA]] familial benign chronic pemphigus.
*AKA ''Hailey-Hailey disease''. Was described by two brothers - that's why it is ''Hailey-Hailey''.<ref name=emed_hailey>URL: [http://emedicine.medscape.com/article/1063224-overview http://emedicine.medscape.com/article/1063224-overview]. Accessed on: 9 September 2011.</ref>
 
===General===
===General===
*Familial.
*Genetic - autosomal dominant with incomplete penetration.<ref name=emed_hailey/>
**Desmosomal defect - due to mutation in the gene ''ATP2C1''.<ref name=emed_hailey/>


Trivia:
Clinical:
*Described by a pair of brothers.
*Chest.
*Intertriginous regions. (???)
*Typically presents individual in their 30s and 40s.<ref name=emed_hailey/>


===Microscopic===
===Microscopic===
Features:  
Features:  
*Suprabasilar blistering.
*Suprabasilar blistering.
*Acanthosis (thick epidermis).
Notes:
*Hair folicles spared.


DDx:
DDx:

Revision as of 17:40, 9 September 2011

Bullous disease happens. Dermatopathologists help diagnose it.

An introduction to skin pathology is in the dermatopathology article. An introduction to inflammatory skin lesions in the non-malignant skin disease article.

DDx of bullous disease:[1]

  • Bullous pemphigoid.
  • Pemphigus vulgaris.
  • Porphyria cutanea tarda.
  • Dermatitis herpetiformis.
  • Epidermolysis bullosa.

Subcorneal bullous disease:

  • Pemphigus foliaceus.
  • Pemphigus vegetans.
  • Grover's disease (transient acantholytic dermatosis).
  • Darier's disease.
  • Hailey-Hailey disease.

Bullous pemphigoid

General

  • Less serious than pemphigus vulgaris.

Epidemiology:

  • Old people (60-80 year olds).

Clinical

  • Extreme pruritis.

Etiology:

  • Antibodies to BPAG2.

Microscopic

Features:[2]

  • Subepidermal blisters.
  • +/-Lymphocytes.
  • +/-Eosinophils.
  • +/-Neutrophils.

Notes:

  • Epidermis not affect, i.e. non-acantholytic.
  • Linear Ig deposits along basement membrane.

Images:

DDx:

  • Bullous lupus.

Pemphigus vulgaris

General

Classic presentation:

  • Mouth lesions.
  • Non-pruritic.

Treatment:

  • Prednisone then steroid sparing agent.

Epidemiology:

  • Associated with thymoma, myasthenia gravis, malignancy & D-penicillamine (used to Tx Wilson's disease).
  • Middle age.

Microscopic

Features:[5]

  • Suprabasilar blistering.

DDx: Hailey-Hailey disease.

Images:

Notes:

  • Desmoglein 1, desmoglein 3 - abnormal.

Familial benign pemphigus

  • AKA Hailey-Hailey disease. Was described by two brothers - that's why it is Hailey-Hailey.[7]

General

  • Genetic - autosomal dominant with incomplete penetration.[7]
    • Desmosomal defect - due to mutation in the gene ATP2C1.[7]

Clinical:

  • Chest.
  • Intertriginous regions. (???)
  • Typically presents individual in their 30s and 40s.[7]

Microscopic

Features:

  • Suprabasilar blistering.
  • Acanthosis (thick epidermis).

Notes:

  • Hair folicles spared.

DDx:

Dermatitis herpetiformis

General

Clinical:

  • Pruritis - intense.

Microscopic

Features:[8]

  • Subepidermal blistering.
  • Clusters of neurophils (microabscesses) - at tips of dermal papillae - key feature.
  • Basal cell injury (vacuolization).

Notes:

  • Immunofluorescence - IgA deposits at dermal papillae.

Images:

Porphyria cutanea tarda

General

Etiology:

  • Genetic, autosomal dominant.

Treatment:

  • D/C aggravating substances (see below) - phlebotomy, hydroxychloroquine if phlebotomy contraindicated.

Note:

  • Fits into a larger category of porphyria.

Associations

Medications/substances:

Non-infection chronic conditions:

Infections:

Gross

  • In photoexposed areas subjected to trauma.

Microscopic

Features:[10]

  • Subepidermal vesicles.
  • Thickening of superficial dermal blood vessels.

Images:

Epidermolysis bullosa

  • Inherited, bullae & erosions from slight mechanical trauma.

Grover disease

  • AKA transient acantholytic dermatosis.

General

  • Genetic. (???)

Microscopic

Features:[11]

  • Subcorneal bullous disease.
  • Acanthosis.
  • Dyskeratosis.

See also

References

  1. ↑ TN07 D21-3.
  2. ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1195. ISBN 978-1416031215.
  3. ↑ URL: http://dermatology.cdlib.org/94/NYU/Feb2002/8.html. Accessed on: 20 March 2011.
  4. ↑ URL: http://missinglink.ucsf.edu/lm/DermatologyGlossary/bullous_pemphigoid.html. Accessed on: 20 March 2011.
  5. ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1193. ISBN 978-1416031215.
  6. ↑ URL: http://www.dermpedia.org/baby-dermpedia-for-beginners/pemphigus-vulgaris. Accessed on: 20 March 2011.
  7. ↑ 7.0 7.1 7.2 7.3 URL: http://emedicine.medscape.com/article/1063224-overview. Accessed on: 9 September 2011.
  8. ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1196. ISBN 978-1416031215.
  9. ↑ URL: http://dermatology.cdlib.org/94/NYU/Nov2001/9.html. Accessed on: 21 March 2011.
  10. ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1197. ISBN 978-1416031215.
  11. ↑ S. Sade. 8 September 2011.
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