Pemphigus chronicus benignus familiaris Q82.8

Authors: Prof. Dr. med. Peter Altmeyer, Pia Nagel

All authors of this article

Last updated on: 18.12.2020

Dieser Artikel auf Deutsch

Synonym(s)

chronic pemphigus; chronic recurrent acantholysis; Dyskeratoid dermatosis; Dyskeratosis bullosa; dyskeratosis bullosa hereditaria; familial benign pemphigus; Familial benign pemphigus; Familial pemphigus benign; Gougerot- Hailey-Hailey disease; Gougerot-Hailey-Hailey disease; Hailey-Hailey disease; M. Hailey-Hailey; OMIM 169600; Pemphigus familiaris chronicus benignus; Pemphigus Gougerot-Hailey-Hailey; recurrent herpetiform dermatitis repens

History
This section has been translated automatically.

Gougerot, 1933; Howard Hailey and Hugh Hailey (brothers), 1939

Definition
This section has been translated automatically.

Eminently chronic, recurrent genodermatosis characterized by inflammatory, weeping and macerated areas in the large folds of the body. Frequent familial occurrence. No nosological relationship to pemphigus vulgaris. Provocation is possible by sun, heat, rubbing and microbial infections (Candida). Probably a variant of Darier's disease.

You might also be interested in

Etiopathogenesis
This section has been translated automatically.

Autosomal dominant inheritance with variable penetrance. Also new mutations. Several mutations were detected on the genes BCPM and ATP2C1, which are mapped on chromosome 3q21-24. The ATP2C1 gene encodes a Golgi associated Ca-ATPase (SERCA2), which is responsible for the Ca content in the Golgi apparatus. A decrease of the Ca level leads to defective processing of different adhesion molecules (E-cadherin), insufficient cell-to-cell adhesion and acantholysis. S.a.u. Dyskeratosis follicularis.

Manifestation
This section has been translated automatically.

First manifestation rarely before the age of 10 LJ, usually after the age of 20.

Localization
This section has been translated automatically.

Especially the cervical, axillary and inguinal regions are affected. More rarely occurring on the trunk.

Clinical features
This section has been translated automatically.

Initially solitary or grouped, elongated vesicles or blisters, severe itching or burning. Due to confluence formation of itchy, reddened, roundish, oval or circulatory plaques covered by greasy scale crusts, usually sharply defined with typical transverse fissures. Often secondary infections (e.g. with Candida). Nikolski Phenomenon I and Nikolski Phenomenon II are positive.

Histology
This section has been translated automatically.

Acanthosis, acantholysis with formation of wide-area, intraepidermal clefts and blisters, which may affect entire rete cones and also continue over the papillae tips; dyskeratotic transformation of the acantholytic cells especially in the stratum granulosum, frequently corps ronds and grains (dyskeratoses), parakeratotic cells in the blister roof. Dermal shows a dense lymphohistiocytic infiltrate.

Electron microscopy: sparse desmosomes, desmolysis.

DD: Pemphigus vulgaris: In contrast to P.v., eosinophilic granulocytes are absent in the intraepidermal lumina and follicular involvement is absent.

IF: Negative!

Differential diagnosis
This section has been translated automatically.

Intertrigo; candidiasis; tinea corporis; pemphigus vegetans; dyskeratosis follicularis; tinea inguinalis.

Notice. In case of non-healing intertriginous "mycoses" always think of pemphigus chronicus benignus familiaris!

Complication(s)
This section has been translated automatically.

Secondary infections.

General therapy
This section has been translated automatically.

Avoid provocative factors, e.g. tight underwear or jeans.

External therapy
This section has been translated automatically.

  • Therapy in smaller foci with weak to moderately strong topical glucocorticoids such as 0.5% hydrocortisone creams/lotions(e.g. Hydro-Wolff, R123 ), 0.1% triamcinolone acetonide (e.g. Triamgalen), 0.25% prednicarbate cream(e.g. Dermatop). Instead of glucocorticoid externa the lesions can also be carefully injected with glucocorticoid crystal suspension, e.g. triamcinolone (e.g. Volon A 10-20 mg diluted 1:2 with LA like 1% Scandicain Lsg.)
  • Successful therapy attempts with Tacrolimus (e.g. Protopic) are described casuistically (Off-Label-Use!).
  • Often the foci are bacterially or mycotically superinfected, therefore alternating therapies with local disinfectants are recommended, e.g. polihexanide (Serasept) or octenidine (Octenisept). Dyes are less practical in daily use (discoloration of the environment).
  • Alternatively, glucocorticoid/antiseptic or glucocorticoid/antiseptic/antifungal combinations can be used, e.g. 0.5% Clioquinol/Hydrocortisone Cream R051, Clioquinol/Flumethasone Cream (Locacorten Vioform), Triclosan/Flumethasone (Duogalen) or Nystatin/Fluprednide Acetate Paste(e.g. Candio-Hermal Plus Paste). Cave! In Intertrigines there is an increased risk of local glucocortical side effects!

Internal therapy
This section has been translated automatically.

  • The therapy as a whole is not satisfactory. Positive treatment results with DADPS (e.g. dapsone fatol) 50-100-150 mg/day p.o. or acitretin (Neotigason) 10-20 mg/day, permanently 10 mg every 2nd day p.o.(not very effective according to own experience) have been reported in individual cases.
  • Systemic immunosuppressants such as ciclosporin A (e.g. Sandimmun) or methotrexate (e.g. MTX) cannot be recommended due to long-term side effects.
  • Success with the biologic etanercept as well as the phosphodiesterase-4 inhibitor apremilast (Kieffer J et al. 2018) has been reported.
  • Single case reports have described success with botulinum toxin A (Kothapalli A et al. 2019), low-dose naltrexone (Albers LN et al. 2017; Jaros J et al. 2019).

Operative therapie
This section has been translated automatically.

  • Cryosurgery. In the open spray procedure, briefly freeze lesional skin, allow to thaw and immediately follow with the 2nd cycle. If this therapy modality does not lead to a permanent success, complete excision and secondary wound healing or plastic covering with meshgraft.
  • Alternative: Dermabrasion of the epidermal portion may lead to complete healing, but repetition once or several times is sometimes necessary.
  • Alternative: Treatment with ablative lasers such asCO2 or Erbium-YAG lasers.
  • Alternative: Photodynamic therapy (Yan XX et al. 2015).

Progression/forecast
This section has been translated automatically.

Chronic recurrent course with remissions. In about 50% of the patients leukonychia striata longitudinalis.

Case report(s)
This section has been translated automatically.

  • Medical history and clinical findings:
  • In a 53-year-old woman coin-sized erythema and plaques have been present for years, partly with and partly without moist crusty deposits, in some cases with painful erosions of small areas. In the area of both axillae large, red, rough plaques, interspersed with multiple fissures. Pronounced foetal odour here. Diagnostically path-breaking, lineal and punctiform erosions when the skin is tightened. Nikolski phenomenon I + II positive. Currently no blisters. However, the patients have already observed them.
  • Histological findings:
  • Formation of intraepidermal clefts and blisters, in the stratum granulosum evidence of corps ronds and grains. Superficial, perivascular and interstitial infiltrate from lymphocytes with some eosinophil granulocytes.
  • Direct immunofluorescence: o.B.

Literature
This section has been translated automatically.

  1. Albers LN et al (2017) Treatment of Hailey-Hailey Disease With Low-Dose Naltrexone. JAMA Dermatol 153:1018-1020.
  2. Ben Lagha I et al (2020) Hailey-Hailey Disease: An Update Review with a Focus on Treatment Data. Am J Clin Dermatol 21:49-68.
  3. Choi DJ et al (2002) Hailey-Hailey disease on sun-exposed areas. Photodermatol Photoimmunol Photomed 18: 214-215.
  4. Falto-Aizpurua LA et al (2015) Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing. J Eur Acad Dermatol Venereol 29:1045-1052.
  5. Gougerot H (1933) Forme de transition entre la dermatite polymorphe douloureuse de Brocq-Duhring et le pemphigus congénital familial héréditaire. Annales de dermatologie et de syphiligraphie (Paris) 5: 255
  6. Hailey H, Hailey H (1939) Familial benign chronic pemphigus. Report of 13 cases in 4 generations of a family and report of 9 additional cases in 4 generations of a family. Arch Derm Syph 39: 679-685
  7. Hamm H et al (1994) Hailey-Hailey Disease. Eradication by dermabrasion. Arch Dermatol 130: 1143-1149
  8. Heymann WR (2019) Naltrexone Therapy for Hailey-Hailey Disease: Confirming My Addiction to Evidence-Based Medicine. Skinmed 17:44-45.
  9. Hwang LY et al (2003) Type 1 segmental manifestation of Hailey-Hailey disease. J Am Acad Dermatol 49: 712-714.
  10. Jaros J et al (2019) Low dose naltrexone in dermatology. J Drugs Dermatol 18:235-238.
  11. Kieffer J et al (2018) Treatment of Severe Hailey-Hailey Disease With Apremilast. JAMA Dermatol 154:1453-1456.
  12. Koeyers WJ et al (2008) Botulinum toxin type A as an adjuvant treatment modality for extensive Hailey.Hailey disease. J Dermatol Treat 19: 251-254.
  13. Lee B et al (2019) The uses of naltrexone in dermatologic conditions. J Am Acad Dermatol 80:1746-1752.
  14. Leung N et al. (2018) Long-term improvement of recalcitrant Hailey-Hailey disease with electron beam radiation therapy: Case report and review. Pract Radiat Oncol 8:e259-e261.
  15. Li H, Sun XK et al (2003) Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. Br J Dermatol 149: 471-474
  16. Nanda KB et al (2014) Hailey-hailey disease responding to thalidomide. Indian J Dermatol 59:190-192.
  17. Ni J et al. (2018) Psoriasiform Hailey-Hailey Disease Presenting as Erythematous Psoriasiform Plaques Throughout the Body: A Case Report. Perm J 22:17-016.
  18. Norman R et al (2006) Case report on etanercept in inflammatory dermatoses. J Am Acad Dermatol 54: 139-142.
  19. Ortiz AE et al. (2011) Laser therapy for Hailey-Hailey disease: review of the literature and a case report. Dermatol Reports 3:e28.
  20. Rabeni EJ et al (2002) Effective treatment of Hailey-Hailey disease with topical tacrolimus. J Am Acad Dermatol 47: 797-798.
  21. Richter-Hintz D et al (2003) Disseminated M. Hailey-Hailey. Dermatologist 54: 372-374
  22. Riquelme-Mc Loughlin C et al (2019) Low-dose naltrexone therapy in benign chronic pemphigus (Hailey-Hailey disease): A case series. J Am Acad Dermatol 81:644-646.
  23. Wilk M et al (1994) Pemphigus chronicus benignus familiaris (Hailey-Hailey disease) and bipolar affective disorder in three members of one family. Dermatologist 45: 313-317
  24. Xing XS et al (2015) Three novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. J Eur Acad Dermatol Venereol doi: 10.1111/jdv.131
  25. Yan XX et al (2015) Successful treatment of hailey-hailey disease with aminolevulinic acid photodynamic therapy. Ann Dermatol 27:222-223.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 18.12.2020