A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein‐1 antibody

A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the... A 45‐year‐old Japanese man first presented with multiple folliculitis and cysts with pigmentation and scarring, which looked like acne conglobata (AC) (Fig. S1). At 54, he exhibited recurrent formation of skin abscesses and fistulae on his scalp, axilla and buttock (Fig. a,b). On the buttock, the abscesses had developed into a huge induration with sinus tracts and granulation tissue, similar to that seen in hidradenitis suppurativa (HS) (Fig. S2). Moreover, severe scales and hyperpigmentation were densely distributed over the whole body, accompanied by skin blisters and erosions mainly on the hands and feet (Fig. c–f).(a,b) At the age of 54 years, the patient developed subcutaneous abscesses and fistulae on his left axilla and left buttock. On the buttock, individual abscesses merged into a huge placoid induration with discharge. The histopathology of the skin lesion is shown in Fig. S2. (c) Hyperkeratosis and severe pigmentation were densely distributed over the whole body. The histopathology of the lesion is shown in Fig. S4. (d) Multiple skin blisters and erosions appeared mainly on the distal portion of the extremities. The histopathology of the lesion is shown in Fig. S3. (e) Close‐up view of the hyperkeratotic and pigmented region on the abdomen revealed scaly hyperkeratosis and uneven pigmentation with some erosions. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical & Experimental Dermatology Wiley

A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein‐1 antibody

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 British Association of Dermatologists
ISSN
0307-6938
eISSN
1365-2230
D.O.I.
10.1111/ced.13326
Publisher site
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Abstract

A 45‐year‐old Japanese man first presented with multiple folliculitis and cysts with pigmentation and scarring, which looked like acne conglobata (AC) (Fig. S1). At 54, he exhibited recurrent formation of skin abscesses and fistulae on his scalp, axilla and buttock (Fig. a,b). On the buttock, the abscesses had developed into a huge induration with sinus tracts and granulation tissue, similar to that seen in hidradenitis suppurativa (HS) (Fig. S2). Moreover, severe scales and hyperpigmentation were densely distributed over the whole body, accompanied by skin blisters and erosions mainly on the hands and feet (Fig. c–f).(a,b) At the age of 54 years, the patient developed subcutaneous abscesses and fistulae on his left axilla and left buttock. On the buttock, individual abscesses merged into a huge placoid induration with discharge. The histopathology of the skin lesion is shown in Fig. S2. (c) Hyperkeratosis and severe pigmentation were densely distributed over the whole body. The histopathology of the lesion is shown in Fig. S4. (d) Multiple skin blisters and erosions appeared mainly on the distal portion of the extremities. The histopathology of the lesion is shown in Fig. S3. (e) Close‐up view of the hyperkeratotic and pigmented region on the abdomen revealed scaly hyperkeratosis and uneven pigmentation with some erosions.

Journal

Clinical & Experimental DermatologyWiley

Published: Jan 1, 2018

References

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