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Case Reports
. 2020 Dec 10:8:9-12.
doi: 10.1016/j.jdcr.2020.12.004. eCollection 2021 Feb.

Refractory pruritus responds to dupilumab in a patient with TTC7A mutation

Yassaman Alipour Tehrany  1 , Louis Marois  2 , Caroline Colmant  1 , Valérie Marchand  3 , Victor Kokta  4 , Jérôme Coulombe  1 , Danielle Marcoux  1 , Elie Haddad  2 , Catherine McCuaig  1
Affiliations
Case Reports

Refractory pruritus responds to dupilumab in a patient with TTC7A mutation

Yassaman Alipour Tehrany et al. JAAD Case Rep. .
No abstract available

Keywords: IL, interleukin; MIA, multiple intestinal atresia; TTC7A mutation; TTC7A, tetratricopeptide repeat domain 7A; chronic pruritus; combined immune deficiency; dupilumab; eczematous lesions; ichthyosis; multiple intestinal atresia; xerosis.

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Conflict of interest statement

Dr Danielle Marcoux has been primary investigator, speaker, and on advisory board for Sanofi Genzyme. Drs Yassaman Alipour Tehrany, Louis Marois, Caroline Colmant, Valérie Marchand, Victor Kokta, Jérôme Coulombe, Elie Haddad, and Catherine McCuaig have no conflicts of interest to declare.

Figures

Fig 1
Fig 1
A, Clinical presentation of the back at 3 years of age with diffuse xerosis, excoriated and eczematous lesions. B, Post-inflammatory hyperpigmentation with scarce excoriated lesions of the back after 3 months of dupilumab.
Fig 2
Fig 2
Skin biopsy of the right arm at the age of 3 years demonstrates the presence of hyperorthokeratosis with a thinned granular layer consistent with ichthyosis. (Hematoxylin-eosin stain; original magnification: ×200.)
See this image and copyright information in PMC

References

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