Saturday, 5 November 2011





12-year old patient presented with this type of scaling [scales, large “plate-like” , very thick, dark brown and firmly adherent, have been over most of the skin surface including the face (A and B) and accentuated on lower extremities (C)] which started within the first month of life. Which congenital disorder of cornification is this?

Normally, cornification involves the construction of the cornified envelope from intracellular protein precursors including loricrin and involucrin. These are cross-linked to lipid ceramides in the granular layer by the action of transglutaminase 1. Kinetic studies in this disease revealed a near-normal transit time, and it is therefore classified as a retention disorder of cornification (retention hyperkeratosis with hypergranulosis). Mutations in the keratinocyte transglutaminase-1 gene on chromosome 14q11.1 interfere with the crosslinkage of loricrin and involucrin and the formation of the cornified cell envelope (retention hyperkeratosis). What are the other congenital disorders of cornification that show retention hyperkeratosis?

Short and long answers are provided below as comments. 

Thursday, 3 November 2011



The history is characteristic. This 22-year old patient with a common fungal infection was satisfied initially with the cream prescribed by another doctor. He stopped applying the cream, the eruption relapsed. Further applications brought renewed relief and the cycles were repeated. He developed few persistent nodules, which become insuppressible by the cream. Scaling was lost in the groins areas as shown (A), and bruise-like brownish discolouration was seen (A). Scaling (arrows) was still seen on the buttocks (B). From which site autoinfection can occur?

Two other patients with the same history and similar findings. 

Spread to the scrotum is common, but scaling is minimal and inflammation is inconspicuous against a background erythema. The penis is occasionally affected as shown above. 

An extension of infection from the groins to the buttocks is not uncommon as shown above.

Short and long answers are provided below as comments.

Main Works of Reference List (The first eight are my top favourites)

  • British National Formulary
  • British National Formulary for Children
  • Guidelines (BAD - BASHH - BHIVA - Uroweb)
  • Oxford Handbook of Genitourinary Medicine, HIV, and Sexual Health
  • Oxford Handbook of Medical Dermatology
  • Rook's Textbook of Dermatology
  • Simple Skin Surgery
  • Weedon's Skin Pathology
  • A Concise Atlas of Dermatopathology (P Mckee)
  • Andrews' Diseases of the Skin
  • Andrology (Nieschlag E FRCP, Behre M and Nieschlag S)
  • Bailey and Love's Short Practice of Surgery
  • Davidson's Essentials of Medicine
  • Davidson's Principles and Practice of Medicine
  • Fitzpatrick's Colour Atlas and Synopsis of Clinical Dermatology (Klaus Wolff FRCP and Richard Allen Johnson)
  • Fitzpatrick’s Dermatology in General Medicine
  • Ganong's Review of Medical Physiology
  • Gray's Anatomy
  • Hamilton Bailey's Demonstrations of Physical Signs in Clinical Surgery
  • Hutchison's Clinical Methods
  • Lever's Histopathology of the Skin
  • Lever's Histopathology of the Skin (Atlas and Synopsis)
  • Macleod's Clinical Examination
  • Martindale: The Complete Drug Reference
  • Oxford Handbook of Clinical Examination and Practical Skills
  • Oxford Textbook of Medicine
  • Practical Dermatopathology (R Rapini)
  • Sexually Transmitted Diseases (Holmes K et al)
  • Statistics in Clinical Practice (D Coggon FRCP)
  • Stockley's Drug Interactions
  • Treatment of Skin Disease: Comprehensive Therapeutic Strategies
  • Yen & Jaffe's Reproductive Endocrinology