Correspondence 671
Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia DOI: 10.1111/bjd.13023
Fig 2. Intranuclear owl eye inclusions (blue arrows), pathognomic of cytomegalovirus.
deficiency was subsequently identified. Retrospective review of the biopsies taken at the earlier colonoscopy showed no features of CMV colitis. While cases of CMV infection (evidenced by serology) preceding episodes of pustular psoriasis have been reported,3 we believe our case is the first to demonstrate histologically proven CMV infection complicating pustular psoriasis with resolution of ulceration following treatment with ganciclovir. Atypical infections should be considered by all clinicians in cases of ulceration that are deteriorating or refractory to treatment, particularly in immunocompromised individuals. 1
Dermatology Centre, and Department of Cellular Pathology, University of Manchester, Manchester Academic Health Science Centre, Salford Royal NHS Foundation Trust, Stott Lane, Manchester M6 8HD, U.K. E-mail: [email protected] 2
F.R. ALI1 R. GREEN2 E. MCMULLEN1 L. MOTTA2 M.R. JUDGE1
References 1 Dauden E, Fernandez-Buezo G, Fraga J et al. Mucocutaneous presence of cytomegalovirus associated with human immunodeficiency virus infection: discussion regarding its pathogenetic role. Arch Dermatol 2001; 137:443–8. 2 Choi YL, Kim JA, Jang KT et al. Characteristics of cutaneous cytomegalovirus infection in non-acquired immune deficiency syndrome, immunocompromised patients. Br J Dermatol 2006; 155:977–82. 3 Yoneda K, Matsuoka-Shirahige Y, Demitsu T, Kubota Y. Pustular psoriasis precipitated by cytomegalovirus infection. Br J Dermatol 2012; 167:1186–9. Funding sources: none. Conflicts of interest: none declared.
© 2014 British Association of Dermatologists
DEAR EDITOR, Ectodermal dysplasia is a clinically and genetically heterogeneous condition characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. Anomalies in other organs including mammary glands (nipple and breast) may also be observed.1 Hypohidrotic or anhidrotic ectodermal dysplasia (HED/ EDA), the most common phenotype of ED, is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (hypodontia or anodontia) and inability to sweat (hypo or anhidrosis). The most frequent form of HED/EDA is the X-linked form (XLHED; MIM #305100) resulting from mutations in the EDA1 gene, located on chromosome Xq12–q13.1, which encodes the ectoderm signalling molecule ectodysplasin (MIM #300451), a member of the tumour necrosis factor (TNF) family; and mutations in the EDA receptor encoding gene EDAR, located on chromosome 2q11–q13 (MIM #604095), or in the EDAR-associated death domain encoding gene EDARADD, located on chromosome 1q42–q43 (MIM #606603), have been shown to cause both autosomal recessive and dominant HED forms.2 These three forms are clinically indistinguishable, probably because they alter a single signal transduction pathway. This pathway is critical for initiation, formation and differentiation of skin appendages.3–5 We report the first case of a female patient with XLHED and bilateral amastia. A female patient born to nonconsanguineous healthy parents has been followed since the age of 11 years when she was seen with the chief complaint of bilateral absence of breast development. Typical features of HED, including sparse scalp hair, lack of sweating, hypodontia and mucous membrane dryness, were observed since infancy. At the age of 15 years, physical examination showed a generally healthy adolescent girl (height 153 cm, 90th centile, weight 35 kg, 50th centile). She had thin, short, dry and breakable scalp hair, sparse eyebrows and scanty eyelashes. Hyperpigmentation around the mouth and over the nose was evident (Fig. 1a), along with near total absence of body hair except for a small rectangular area on the external side of the right thigh. She had no nail dystrophy. Sweating was absent in hands and feet and reduced in the underarms and on the back during childhood. No changes were noticed after adolescence. Complete, bilateral absence of breast tissue (amastia) with normal musculus pectoralis was noted (Fig. 1b,c). Although her breasts failed to develop, regular menses had started at the age of 13 years, and there was no evidence of delayed puberty or abnormalities in other developmental milestones. A gynaecological examination, with pelvic ultrasound, confirmed that she had normal female internal genitalia. HorBritish Journal of Dermatology (2014) 171, pp657–678
672 Correspondence
(a)
(b)
(c)
Fig 1. Clinical manifestations. The proband presented with typical clinical manifestations of hypohidrotic ectodermal dysplasia: sparse, thin, dry and long scalp hair with two small zones of alopecia and absence of the external 1/3 of the eyebrows with scanty eyelashes. Hyperpigmentation around the mouth and over the nose was evident (a). Bilateral absence of breasts (amastia, b, c).
monal parameters were within the normal ranges. There is no familial history of HED/EDA. After giving informed, signed consent, EDA1, EDAR, EDARADD genes were analysed by both the Sanger sequencing method and Multiplex Ligation-dependent Probe Amplification (MLPA). The Sanger method did not detect any mutations in the three tested genes while MLPA detected a duplication of exon 2 of the EDA1 gene in the proband that was absent in parental DNA. MLPA was normal in both EDAR and EDARRAD genes. X-inactivation status in the leucocyte DNA of the patient showed that the X inactivation was skewed for the patient (11% vs. 89%) at the androgen receptor locus. Breast and nipple anomalies are reported in a large group of patients with ED including incontinentia pigmenti.6 Over 30% of male patients with XLHED were reported to have either absent, simple or supernumerary nipples, and about 79% of female carriers who attempted to breastfeed reported an insufficiency of milk.7
Here we report the first case of a female with XLHED with EDA1 gene duplication showing bilateral amastia. The exon 2 duplication is a novel mutation and to our knowledge this is the first report of intragenic duplication of EDA1 in HED/EDA. The detection of such molecular anomalies required specific molecular genetic approaches such as MLPA. At least eight isoforms of ectodysplasin are described. Exon 2 (starting from c.397 to c.502) is present in the two main isoforms, EDA-A1 and EDA-A2. It represents amino acids 133–167 and encodes the furin region, which is involved in cleavage of the protein before its liaison with the EDAR receptor. Moreover, the patient presented with a skewed X inactivation in leucocyte DNA associated with a moderate to severe EDA phenotype suggesting a random distribution of functional X-chromosome mosaicism. Usually in XLHED, males show a severe form of EDA, while females manifest mild to moderate symptoms with only 1% of females presenting a phenotype as severe as in the males.8 Amastia has been reported in two previously
Table 1 Clinical report of female patients with hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) with mammary gland anomalies Patient
Patient 1 (our case)
Patient 29
Patient 310
Age (years) Sex Mode of inheritance Mutation (molecular finding)
15 Female X-linked Duplication of exon 2 of EDA1 gene Present Bilateral absent breasts with normal nipples Normal
18 Female Autosomal recessive Homozygous EDAR mutation (IVS9 + 1G>A) Present Bilateral absent breasts, extranumerary areola and nipple on the left side Never
16 Female Autosomal recessive Homozygous missense EDAR mutation c.338G>A (p.C113Y) Present Bilateral absent breasts
Typical features of HED Mammary glands anomalies Menstruation
British Journal of Dermatology (2014) 171, pp657–678
Normal
© 2014 British Association of Dermatologists
Correspondence 673
published cases of female patients carrying an EDAR gene mutation (Table 1).9,10 Recently, the role of a unique TNF pathway in mammary gland morphogenesis has been identified. The EDA/EDAR/NF-jB pathway seems to be a driver of hormone-independent ductal growth and branching.11 Thus we may suggest that women presenting with breast or nipple anomalies associated, or not, with breastfeeding difficulties should have a dermatological examination to exclude HED/EDA. If warranted, genetic testing including MLPA might be proposed in at-risk patients. 1
Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC) and 2 Laboratoire de diagnostic moleculaire, H^opital Universitaire Necker-Enfants Malades, Assistance Publique-H^opitaux de Paris, 149 rue de Sevres, FR-75015 Paris, France 3 Institut Imagine, Universite Paris Descartes – Sorbonne Paris Cite, Paris, France Correspondence: Smail Hadj-Rabia. E-mail: [email protected]
F. AL MARZOUQI1 C. MICHOT2,3 S. DOS SANTOS2 J.-P. BONNEFONT2,3 C. BODEMER1,3 S. HADJ-RABIA1,3
References 1 Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 2009; 149A:1980–2002. 2 Cluzeau C, Hadj-Rabia S, Jambou M et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 2011; 32:70– 2. 3 Laurikkala J, Pispa J, Jung HS et al. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development 2002; 129:2541–53. 4 Mustonen T, Ilmonen M, Pummila M et al. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 2004; 131:4907–19. 5 Pummila M, Fliniaux I, Jaatinen R et al. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Development 2007; 134:117–25. 6 Hadj-Rabia S, Rimella A, Smahi A et al. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-jB essential modulator gene mutations. J Am Acad Dermatol 2011; 64:508–15. 7 Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62:989–96. 8 Vincent MC, Biancalana V, Ginisty D et al. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001; 9:355–63. 9 Megarbane H, Cluzeau C, Bodemer C et al. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. Am J Med Genet A 2008; 146A:2657–62. 10 Haghighi A, Nikuei P, Haghighi-Kakhki H et al. Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilat© 2014 British Association of Dermatologists
eral amastia and palmoplantar hyperkeratosis. Br J Dermatol 2013; 168:1353–6. 11 Voutilainen M, Lindfors PH, Lefebvre S et al. Ectodysplasin regulates hormone-independent mammary ductal morphogenesis via NF-jB. Proc Natl Acad Sci USA 2012; 109:5744–9. Funding sources: no external funding. Conflicts of interest: none declared.
The prevalence of hidradenitis suppurativa in 1093 patients with inflammatory bowel disease DOI: 10.1111/bjd.13002 DEAR EDITOR, Hidradenitis suppurativa (HS), also known as acne inversa, is an inflammatory skin disease characterized by painful nodules, abscesses and fistulas.1 The groin, axillae and buttocks are the most frequently affected skin areas.2 Diseaseassociated factors include smoking, obesity, mechanical friction, genetic predisposition, hormonal influences and an aberrant innate immune response.1 The main treatment options include systemic antibiotics, such as clindamycin with rifampicin, surgery, and in severe cases antitumour necrosis factor-a biologics.3 HS has a reported prevalence of up to 4%, although it was recently estimated at six per 100 000 in the U.S.A.4 Inflammatory bowel disease (IBD) is an umbrella term that includes Crohn disease (CD) and ulcerative colitis (UC). The prevalence rates of adult CD and UC in the U.S.A. are 0201% and 0238%, respectively.5 HS has been reported to co-occur with CD, with several case reports suggesting an association.6 Recently, we estimated the prevalence of HS at 16% in a cohort of 158 patients with IBD, and we provided a comparison between HS and IBD.6 We also suggested that an association might demonstrate a similar pathogenic mechanism providing new therapeutic options for HS.6 In this sequel study, we present the self-reported prevalence of HS and its disease characteristics in a large cohort of patients with IBD. Patients diagnosed with IBD in the Department of Gastroenterology of the Erasmus University Medical Center in Rotterdam, and members of the Dutch Crohn and Ulcerative Colitis Patients Association (CCUVN), were requested to fill in a questionnaire. This questionnaire was available in print in the hospital setting and online for members of the CCUVN. Firstly, patients with IBD provided general characteristics and information about their CD or UC. Next, they were asked whether or not they had recurrent painful boils in the axillae and or groin. When the answer was yes, three prototypical colour pictures of HS by Hurley severity stage were shown to enable the patient to self-assess their HS severity. Thereafter several questions about their HS followed. As the questionnaire was filled in anonymously, no medical ethical committee approval was required under Dutch law.
British Journal of Dermatology (2014) 171, pp657–678
Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia DOI: 10.1111/bjd.13023
Fig 2. Intranuclear owl eye inclusions (blue arrows), pathognomic of cytomegalovirus.
deficiency was subsequently identified. Retrospective review of the biopsies taken at the earlier colonoscopy showed no features of CMV colitis. While cases of CMV infection (evidenced by serology) preceding episodes of pustular psoriasis have been reported,3 we believe our case is the first to demonstrate histologically proven CMV infection complicating pustular psoriasis with resolution of ulceration following treatment with ganciclovir. Atypical infections should be considered by all clinicians in cases of ulceration that are deteriorating or refractory to treatment, particularly in immunocompromised individuals. 1
Dermatology Centre, and Department of Cellular Pathology, University of Manchester, Manchester Academic Health Science Centre, Salford Royal NHS Foundation Trust, Stott Lane, Manchester M6 8HD, U.K. E-mail: [email protected] 2
F.R. ALI1 R. GREEN2 E. MCMULLEN1 L. MOTTA2 M.R. JUDGE1
References 1 Dauden E, Fernandez-Buezo G, Fraga J et al. Mucocutaneous presence of cytomegalovirus associated with human immunodeficiency virus infection: discussion regarding its pathogenetic role. Arch Dermatol 2001; 137:443–8. 2 Choi YL, Kim JA, Jang KT et al. Characteristics of cutaneous cytomegalovirus infection in non-acquired immune deficiency syndrome, immunocompromised patients. Br J Dermatol 2006; 155:977–82. 3 Yoneda K, Matsuoka-Shirahige Y, Demitsu T, Kubota Y. Pustular psoriasis precipitated by cytomegalovirus infection. Br J Dermatol 2012; 167:1186–9. Funding sources: none. Conflicts of interest: none declared.
© 2014 British Association of Dermatologists
DEAR EDITOR, Ectodermal dysplasia is a clinically and genetically heterogeneous condition characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. Anomalies in other organs including mammary glands (nipple and breast) may also be observed.1 Hypohidrotic or anhidrotic ectodermal dysplasia (HED/ EDA), the most common phenotype of ED, is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (hypodontia or anodontia) and inability to sweat (hypo or anhidrosis). The most frequent form of HED/EDA is the X-linked form (XLHED; MIM #305100) resulting from mutations in the EDA1 gene, located on chromosome Xq12–q13.1, which encodes the ectoderm signalling molecule ectodysplasin (MIM #300451), a member of the tumour necrosis factor (TNF) family; and mutations in the EDA receptor encoding gene EDAR, located on chromosome 2q11–q13 (MIM #604095), or in the EDAR-associated death domain encoding gene EDARADD, located on chromosome 1q42–q43 (MIM #606603), have been shown to cause both autosomal recessive and dominant HED forms.2 These three forms are clinically indistinguishable, probably because they alter a single signal transduction pathway. This pathway is critical for initiation, formation and differentiation of skin appendages.3–5 We report the first case of a female patient with XLHED and bilateral amastia. A female patient born to nonconsanguineous healthy parents has been followed since the age of 11 years when she was seen with the chief complaint of bilateral absence of breast development. Typical features of HED, including sparse scalp hair, lack of sweating, hypodontia and mucous membrane dryness, were observed since infancy. At the age of 15 years, physical examination showed a generally healthy adolescent girl (height 153 cm, 90th centile, weight 35 kg, 50th centile). She had thin, short, dry and breakable scalp hair, sparse eyebrows and scanty eyelashes. Hyperpigmentation around the mouth and over the nose was evident (Fig. 1a), along with near total absence of body hair except for a small rectangular area on the external side of the right thigh. She had no nail dystrophy. Sweating was absent in hands and feet and reduced in the underarms and on the back during childhood. No changes were noticed after adolescence. Complete, bilateral absence of breast tissue (amastia) with normal musculus pectoralis was noted (Fig. 1b,c). Although her breasts failed to develop, regular menses had started at the age of 13 years, and there was no evidence of delayed puberty or abnormalities in other developmental milestones. A gynaecological examination, with pelvic ultrasound, confirmed that she had normal female internal genitalia. HorBritish Journal of Dermatology (2014) 171, pp657–678
672 Correspondence
(a)
(b)
(c)
Fig 1. Clinical manifestations. The proband presented with typical clinical manifestations of hypohidrotic ectodermal dysplasia: sparse, thin, dry and long scalp hair with two small zones of alopecia and absence of the external 1/3 of the eyebrows with scanty eyelashes. Hyperpigmentation around the mouth and over the nose was evident (a). Bilateral absence of breasts (amastia, b, c).
monal parameters were within the normal ranges. There is no familial history of HED/EDA. After giving informed, signed consent, EDA1, EDAR, EDARADD genes were analysed by both the Sanger sequencing method and Multiplex Ligation-dependent Probe Amplification (MLPA). The Sanger method did not detect any mutations in the three tested genes while MLPA detected a duplication of exon 2 of the EDA1 gene in the proband that was absent in parental DNA. MLPA was normal in both EDAR and EDARRAD genes. X-inactivation status in the leucocyte DNA of the patient showed that the X inactivation was skewed for the patient (11% vs. 89%) at the androgen receptor locus. Breast and nipple anomalies are reported in a large group of patients with ED including incontinentia pigmenti.6 Over 30% of male patients with XLHED were reported to have either absent, simple or supernumerary nipples, and about 79% of female carriers who attempted to breastfeed reported an insufficiency of milk.7
Here we report the first case of a female with XLHED with EDA1 gene duplication showing bilateral amastia. The exon 2 duplication is a novel mutation and to our knowledge this is the first report of intragenic duplication of EDA1 in HED/EDA. The detection of such molecular anomalies required specific molecular genetic approaches such as MLPA. At least eight isoforms of ectodysplasin are described. Exon 2 (starting from c.397 to c.502) is present in the two main isoforms, EDA-A1 and EDA-A2. It represents amino acids 133–167 and encodes the furin region, which is involved in cleavage of the protein before its liaison with the EDAR receptor. Moreover, the patient presented with a skewed X inactivation in leucocyte DNA associated with a moderate to severe EDA phenotype suggesting a random distribution of functional X-chromosome mosaicism. Usually in XLHED, males show a severe form of EDA, while females manifest mild to moderate symptoms with only 1% of females presenting a phenotype as severe as in the males.8 Amastia has been reported in two previously
Table 1 Clinical report of female patients with hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) with mammary gland anomalies Patient
Patient 1 (our case)
Patient 29
Patient 310
Age (years) Sex Mode of inheritance Mutation (molecular finding)
15 Female X-linked Duplication of exon 2 of EDA1 gene Present Bilateral absent breasts with normal nipples Normal
18 Female Autosomal recessive Homozygous EDAR mutation (IVS9 + 1G>A) Present Bilateral absent breasts, extranumerary areola and nipple on the left side Never
16 Female Autosomal recessive Homozygous missense EDAR mutation c.338G>A (p.C113Y) Present Bilateral absent breasts
Typical features of HED Mammary glands anomalies Menstruation
British Journal of Dermatology (2014) 171, pp657–678
Normal
© 2014 British Association of Dermatologists
Correspondence 673
published cases of female patients carrying an EDAR gene mutation (Table 1).9,10 Recently, the role of a unique TNF pathway in mammary gland morphogenesis has been identified. The EDA/EDAR/NF-jB pathway seems to be a driver of hormone-independent ductal growth and branching.11 Thus we may suggest that women presenting with breast or nipple anomalies associated, or not, with breastfeeding difficulties should have a dermatological examination to exclude HED/EDA. If warranted, genetic testing including MLPA might be proposed in at-risk patients. 1
Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC) and 2 Laboratoire de diagnostic moleculaire, H^opital Universitaire Necker-Enfants Malades, Assistance Publique-H^opitaux de Paris, 149 rue de Sevres, FR-75015 Paris, France 3 Institut Imagine, Universite Paris Descartes – Sorbonne Paris Cite, Paris, France Correspondence: Smail Hadj-Rabia. E-mail: [email protected]
F. AL MARZOUQI1 C. MICHOT2,3 S. DOS SANTOS2 J.-P. BONNEFONT2,3 C. BODEMER1,3 S. HADJ-RABIA1,3
References 1 Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 2009; 149A:1980–2002. 2 Cluzeau C, Hadj-Rabia S, Jambou M et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 2011; 32:70– 2. 3 Laurikkala J, Pispa J, Jung HS et al. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Development 2002; 129:2541–53. 4 Mustonen T, Ilmonen M, Pummila M et al. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 2004; 131:4907–19. 5 Pummila M, Fliniaux I, Jaatinen R et al. Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Development 2007; 134:117–25. 6 Hadj-Rabia S, Rimella A, Smahi A et al. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-jB essential modulator gene mutations. J Am Acad Dermatol 2011; 64:508–15. 7 Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62:989–96. 8 Vincent MC, Biancalana V, Ginisty D et al. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. Eur J Hum Genet 2001; 9:355–63. 9 Megarbane H, Cluzeau C, Bodemer C et al. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. Am J Med Genet A 2008; 146A:2657–62. 10 Haghighi A, Nikuei P, Haghighi-Kakhki H et al. Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilat© 2014 British Association of Dermatologists
eral amastia and palmoplantar hyperkeratosis. Br J Dermatol 2013; 168:1353–6. 11 Voutilainen M, Lindfors PH, Lefebvre S et al. Ectodysplasin regulates hormone-independent mammary ductal morphogenesis via NF-jB. Proc Natl Acad Sci USA 2012; 109:5744–9. Funding sources: no external funding. Conflicts of interest: none declared.
The prevalence of hidradenitis suppurativa in 1093 patients with inflammatory bowel disease DOI: 10.1111/bjd.13002 DEAR EDITOR, Hidradenitis suppurativa (HS), also known as acne inversa, is an inflammatory skin disease characterized by painful nodules, abscesses and fistulas.1 The groin, axillae and buttocks are the most frequently affected skin areas.2 Diseaseassociated factors include smoking, obesity, mechanical friction, genetic predisposition, hormonal influences and an aberrant innate immune response.1 The main treatment options include systemic antibiotics, such as clindamycin with rifampicin, surgery, and in severe cases antitumour necrosis factor-a biologics.3 HS has a reported prevalence of up to 4%, although it was recently estimated at six per 100 000 in the U.S.A.4 Inflammatory bowel disease (IBD) is an umbrella term that includes Crohn disease (CD) and ulcerative colitis (UC). The prevalence rates of adult CD and UC in the U.S.A. are 0201% and 0238%, respectively.5 HS has been reported to co-occur with CD, with several case reports suggesting an association.6 Recently, we estimated the prevalence of HS at 16% in a cohort of 158 patients with IBD, and we provided a comparison between HS and IBD.6 We also suggested that an association might demonstrate a similar pathogenic mechanism providing new therapeutic options for HS.6 In this sequel study, we present the self-reported prevalence of HS and its disease characteristics in a large cohort of patients with IBD. Patients diagnosed with IBD in the Department of Gastroenterology of the Erasmus University Medical Center in Rotterdam, and members of the Dutch Crohn and Ulcerative Colitis Patients Association (CCUVN), were requested to fill in a questionnaire. This questionnaire was available in print in the hospital setting and online for members of the CCUVN. Firstly, patients with IBD provided general characteristics and information about their CD or UC. Next, they were asked whether or not they had recurrent painful boils in the axillae and or groin. When the answer was yes, three prototypical colour pictures of HS by Hurley severity stage were shown to enable the patient to self-assess their HS severity. Thereafter several questions about their HS followed. As the questionnaire was filled in anonymously, no medical ethical committee approval was required under Dutch law.
British Journal of Dermatology (2014) 171, pp657–678
