Section : Conference Notes

New targeted therapies for genetically linked skin diseases

Tuberous Sclerosis

  • Topical Rapamycin could be used to treat facial angiofibromas (“Adenoma Sebaceum”) (link) (Archives of Dermatology, 2010)

Neurofibromatosis (Recklinghausen’s Disease)

  • Mast cells play an important role
  • The c-Kit receptor on mast cells is stimulated by mediators that are liberated by Schwann cells
  • The activation of mast cells then induces the liberation of maediators that lead to proliferation of Schwann cells and the subsequent tumor formation.
  • Imatinib inhibits c-Kit activation and could therefore play a role

Basal Cell Carcinoma (BCC)

  • In Gorlin’s Syndrome as well as sporadic BCCs, mutations of the PTCH (Patched) gene have been found.
  • This mutations leads to the overactivity of the hedgehog pathway and subsequent carcinoma formation.
  • Inhibition of this pathway through inhibition of SMO (Smoothened) is possible with oral and topical substances (LDE 225 is an example…)


  • Mutations of the LMNA gene have been found
  • Inhibition of the nuclear activation is possible with inhibitors of farnexytransferase

Recessive Dystrophic Epidermolysis Bullosa (EB)

  • deficiency of collagen VII is responsible for this condition.
  • It has been shown that injection of collagen VII into the wounds can reverse this phenomenon
  • When applied topically, it has been shown to accelerate wound healing in mice.

CHILD syndrome (Congenital Hemidysplasia with Ichtyosiform Lesions and Limb Defects)

  • Proteolysis of HMG Co-A is dependant on cholesterol. A lack of this leads subsequently to an abnormal Stratum Corneum.
  • Topical formulations containing 2% lovastatin and 2% cholesterol have been shown to show good clinical results (link)

Epidermolysis Bullosa Simplex (EBS)

  • Symptoms are due to a mutation and functional absence of keratin 14 (K14)
  • Addition of K16 can compensate for this loss.
  • Sulforaphane in Broccoli Sporouts could compensate for this loss by supplying K16 and K17.


Dr Christophe HSU – dermatologist. Geneva, Switzerland

Source of Information: SY 22. Paller A. Update on Genetic Disorders. 2012 (06) – 9th Spring Symposium of the EADV (European Academy of Dermatology and Venerology) – Verona, Italiy (Italia)

Category : Basal Cell Carcinoma (BCC) - Modifie le 06.10.2012Category : Carcinome Basocellulaire (CBC) - Modifie le 06.10.2012Category : CHILD syndrome - Modifie le 06.10.2012Category : Epidermolyse Bulleuse Dystrophique Récessive - Modifie le 06.10.2012Category : Epidermolyse Bulleuse Simple (Simplex) (EBS) - Modifie le 06.10.2012Category : Epidermolysis Bullosa Simplex (EBS) - Modifie le 06.10.2012Category : Neurofibromatose (Maladie de Recklinghausen) - Modifie le 06.10.2012Category : Neurofibromatosis (Recklinghausen's Disease) - Modifie le 06.10.2012Category : New targeted therapies for genetically linked skin diseases - Modifie le 06.10.2012Category : Nouvelles thérapies ciblées pour le traitement de maladies de la peau avec des anomalies génétiques - Modifie le 06.10.2012Category : progeria - Modifie le 06.10.2012Category : Recessive Dystrophic Epidermolysis Bullosa (EB) - Modifie le 06.10.2012Category : Sclérose Tubéreuse de Bourneville - Modifie le 06.10.2012Category : Syndrome de CHILD - Modifie le 06.10.2012Category : Tuberous Sclerosis - Modifie le 06.10.2012