Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2014

Open Access 01-12-2014 | Research

Bullous pemphigoid in infants: characteristics, diagnosis and treatment

Authors: Agnes Schwieger-Briel, Cornelia Moellmann, Birgit Mattulat, Franziska Schauer, Dimitra Kiritsi, Enno Schmidt, Cassian Sitaru, Hagen Ott, Johannes S Kern

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

Login to get access

Abstract

Background

Bullous pemphigoid (BP) in infants is a rare but increasingly reported autoimmune blistering skin disease. Autoantibody reactivity is usually poorly characterized. Current guidelines do not address specific aspects of the infantile form of BP. The objectives of this study are to define clinical and diagnostic characteristics of infantile BP and develop a treatment algorithm.

Methods

Detailed characterization of a current case series of five infants with BP from our departments. Comprehensive analysis of all reported cases (1–12 months) with respect to clinical and laboratory characteristics, treatment and outcome.

Results

In total 81 cases were identified (including our own). The mean age was 4.5 months. Moderately severe and severe disease was seen in 84% of cases. Involvement of hands and feet was present in all cases. Immunofluorescence microscopy was comparable with BP in adults. Where analyzed, the NC16A domain of bullous pemphigoid 180 kDa antigen/collagen XVII (BP180) was identified as the major target antigen. BP180 NC16A ELISA values in our cohort were significantly higher than in a control cohort of 28 newly diagnosed adult patients.
50% of patients were treated with systemic corticosteroids, 20% with a combination of systemic corticosteroids and dapsone or sulfapyridine and 10% with topical corticosteroids alone. 14% of patients needed a combination of multiple immunosuppressants. All but one patient reached remission. Relapses were rare.

Conclusions

Presentation of infantile BP is often severe with blistering of hands and feet present in all cases. Pathogenesis and diagnostic criteria are comparable to adult BP, yet BP180 NC16A ELISA levels seem to be significantly higher in infants. The overall disease outcome is favorable. Based on the results of this study we propose a treatment algorithm for infantile BP.
Appendix
Available only for authorised users
Literature
1.
Schmidt E, Zillikens D: Pemphigoid diseases. Lancet. 2013, 381: 320-332. 10.1016/S0140-6736(12)61140-4.CrossRefPubMed
2.
Di Zenzo G, Della Torre R, Zambruno G, Borradori L: Bullous pemphigoid: from the clinic to the bench. Clin Dermatol. 2012, 30: 3-16. 10.1016/j.clindermatol.2011.03.005.CrossRefPubMed
3.
Murrell DF, Daniel BS, Joly P, Borradori L, Amagai M, Hashimoto T, Caux F, Marinovic B, Sinha AA, Hertl M, Bernard P, Sirois D, Cianchini G, Fairley JA, Jonkman MF, Pandya AG, Rubenstein D, Zillikens D, Payne AS, Woodley D, Zambruno G, Aoki V, Pincelli C, Diaz L, Hall RP, Meurer M, Mascaro JM, Schmidt E, Shimizu H, Zone J, et al: Definitions and outcome measures for bullous pemphigoid: recommendations by an international panel of experts. J Am Acad Dermatol. 2012, 66: 479-485. 10.1016/j.jaad.2011.06.032.CrossRefPubMed
4.
Kneisel A, Hertl M: Autoimmune bullous skin diseases. Part 1: clinical manifestations. J Dtsch Dermatol Ges. 2011, 9: 844-856. quiz 857PubMed
5.
Yeh SW, Ahmed B, Sami N, Razzaque Ahmed A: Blistering disorders: diagnosis and treatment. Dermatol Ther. 2003, 16: 214-223. 10.1046/j.1529-8019.2003.01631.x.CrossRefPubMed
6.
Langan SM, Smeeth L, Hubbard R, Fleming KM, Smith CJP, West J: Bullous pemphigoid and pemphigus vulgaris–incidence and mortality in the UK: population based cohort study. BMJ. 2008, 337: a180-10.1136/bmj.a180.CrossRefPubMedPubMedCentral
7.
Joly P, Baricault S, Sparsa A, Bernard P, Bédane C, Duvert-Lehembre S, Courville P, Bravard P, Rémond B, Doffoel-Hantz V, Bénichou J: Incidence and mortality of bullous pemphigoid in France. J Invest Dermatol. 2012, 132: 1998-2004. 10.1038/jid.2012.35.CrossRefPubMed
8.
Fisler RE, Saeb M, Liang MG, Howard RM, McKee PH: Childhood bullous pemphigoid: a clinicopathologic study and review of the literature. Am J Dermatopathol. 2003, 25: 183-189. 10.1097/00000372-200306000-00001.CrossRefPubMed
9.
Lara-Corrales I, Pope E: Autoimmune blistering diseases in children. Semin Cutan Med Surg. 2010, 29: 85-91. 10.1016/j.sder.2010.03.005.CrossRefPubMed
10.
Bean SF, Good RA, Windhorst DB: Bullous pemphigoid in an 11-year-old boy. Arch Dermatol. 1970, 102: 205-208. 10.1001/archderm.1970.04000080077015.CrossRefPubMed
11.
Gould WM, Zlotnick DA: Bullous pemphigoid in infancy: a case report. Pediatrics. 1977, 59: 942-945.PubMed
12.
Nemeth AJ, Klein AD, Gould EW, Schachner LA: Childhood bullous pemphigoid. Clinical and immunologic features, treatment, and prognosis. Arch Dermatol. 1991, 127: 378-386. 10.1001/archderm.1991.01680030098014.CrossRefPubMed
13.
Waisbourd-Zinman O, Ben-Amitai D, Cohen AD, Feinmesser M, Mimouni D, Adir-Shani A, Zlotkin M, Zvulunov A: Bullous pemphigoid in infancy: clinical and epidemiologic characteristics. J Am Acad Dermatol. 2008, 58: 41-48. 10.1016/j.jaad.2007.08.010.CrossRefPubMed
14.
Brazzelli V, Grasso V, Bossi G, Borroni G: Is there a role for the detection of autoantibodies in the clinical practice of treating infants with bullous pemphigoid? A case report. Pediatr Dermatol 2013. [Epub ahead of print].,
15.
Wojnarowska F, Kirtschig G, Highet AS, Venning VA, Khumalo NP, British Association of Dermatologists: Guidelines for the management of bullous pemphigoid. Br J Dermatol. 2002, 147: 214-221. 10.1046/j.1365-2133.2002.04835.x.CrossRefPubMed
16.
Bernard P, Bedane C, Prost C, Ingen-Housz-Oro S, Joly P, Centres de référence des maladies bulleuses auto-immunes. Société Française de Dermatologie: [Bullous pemphigoid. Guidelines for the diagnosis and treatment]. Centres de référence des maladies bulleuses auto-immunes. Société Française de Dermatologie]. Ann Dermatol Venereol. 2011, 138: 247-251. 10.1016/j.annder.2011.01.009.CrossRefPubMed
17.
Kirtschig G, Middleton P, Bennett C, Murrell DF, Wojnarowska F, Khumalo NP: Interventions for bullous pemphigoid. Cochrane Database Syst Rev. 2010, 6 (10): CD002292-
18.
Fuertes De Vega I, Iranzo-Fernández P, Mascaró-Galy JM: Bullous pemphigoid: clinical practice guidelines. Actas Dermosifiliogr. 2014, 105: 328-346. 10.1016/j.ad.2012.10.022.CrossRefPubMed
19.
Sitaru C, Schmidt E, Petermann S, Munteanu LS, Bröcker E-B, Zillikens D: Autoantibodies to bullous pemphigoid antigen 180 induce dermal-epidermal separation in cryosections of human skin. J Invest Dermatol. 2002, 118: 664-671. 10.1046/j.1523-1747.2002.01720.x.CrossRefPubMed
20.
Kern JS, Gehring W, Kreisel W, Hertl M, Technau-Hafsi K, Bruckner-Tuderman L, Hofmann SC: Overlap of IgA pemphigus and linear IgA dermatosis in a patient with ulcerative colitis: a mere coincidence?. Acta Derm Venereol. 2014, 94 (2): 228-230. 10.2340/00015555-1658.CrossRefPubMed
21.
Hofmann SC, Voith U, Sasaki T, Trüeb RM, Nischt R, Bruckner-Tuderman L: The autoantigen in anti-p200 pemphigoid is synthesized by keratinocytes and fibroblasts and is distinct from nidogen-2. J Invest Dermatol. 2008, 128: 87-95. 10.1038/sj.jid.5700952.CrossRefPubMed
22.
Marsden RA, McKee PH, Bhogal B, Black MM, Kennedy LA: A study of benign chronic bullous dermatosis of childhood and comparison with dermatitis herpetiformis and bullous pemphigoid occurring in childhood. Clin Exp Dermatol. 1980, 5: 159-176. 10.1111/j.1365-2230.1980.tb01684.x.CrossRefPubMed
23.
Hernández-Aguado I, Sánchez-Pedreño-Guillén P, Moreno-Giménez JC, Camacho-Martínez F: [Bullous pemphigoid in a 5-month-old infant]. Med Cutan Ibero Lat Am. 1982, 10: 391-394.PubMed
24.
Marsden RA: Bullous pemphigoid in a child. Clin Exp Dermatol. 1983, 8: 329-332. 10.1111/j.1365-2230.1983.tb01788.x.CrossRefPubMed
25.
Tani M, Tani M, Komura A, Murata Y: Bullous pemphigoid of childhood: report of a case and immunoelectron microscopic studies. J Am Acad Dermatol. 1988, 19 (2 Pt 1): 366-367. 10.1016/S0190-9622(88)80259-7.CrossRefPubMed
26.
Oranje AP, Vuzevski VD, van Joost T, ten Kate F, Naafs B: Bullous pemphigoid in children. Report of three cases with special emphasis on therapy. Int J Dermatol. 1991, 30: 339-342. 10.1111/j.1365-4362.1991.tb03871.x.CrossRefPubMed
27.
Ostlere LS, Stevens H, Black MM, Rustin MH, Hashimoto T, Nishikawa T: Bullous pemphigoid in infancy–a case report including new immunoblotting observations. Clin Exp Dermatol. 1993, 18: 483-485. 10.1111/j.1365-2230.1993.tb02259.x.CrossRefPubMed
28.
Kirtschig G, Wojnarowska F, Marsden RA, Edwards S, Bhogal B, Black MM: Acquired bullous diseases of childhood: re-evaluation of diagnosis by indirect immunofluorescence examination on 1 M NaCl split skin and immunoblotting. Br J Dermatol. 1994, 130: 610-616. 10.1111/j.1365-2133.1994.tb13108.x.CrossRefPubMed
29.
Cambazard F, Thivolet J, Mironneau P: Bullous pemphigoid in a 4-month-old boy. Br J Dermatol. 1994, 131: 449-451. 10.1111/j.1365-2133.1994.tb08540.x.CrossRefPubMed
30.
Nagano T, Tani M, Adachi A, Takanaga T, Sakamoto S, Kodama S, Fujiwara S: Childhood bullous pemphigoid: immunohistochemical, immunoelectron microscopic, and western blot analysis. J Am Acad Dermatol. 1994, 30 (5 Pt 2): 884-888. 10.1016/S0190-9622(94)70106-7.CrossRefPubMed
31.
Wisuthsarewong W, Viravan S, Kulthanan K: Bullous pemphigoid in an infant: a case report and literature review. J Med Assoc Thai. 1997, 80: 270-274.PubMed
32.
Edwards S, Wakelin SH, Wojnarowska F, Marsden RA, Kirtschig G, Bhogal B, Black MM: Bullous pemphigoid and epidermolysis bullosa acquisita: presentation, prognosis, and immunopathology in 11 children. Pediatr Dermatol. 1998, 15: 184-190. 10.1046/j.1525-1470.1998.1998015184.x.CrossRefPubMed
33.
Cunha PR, Thomazeski PV, Hipólito E, Michalany NS, Bystryn JC: Bullous pemphigoid in a 2-month-old infant. Int J Dermatol. 1998, 37: 935-938. 10.1046/j.1365-4362.1998.00615.x.CrossRefPubMed
34.
Amos B, Deng JS, Flynn K, Suarez S: Bullous pemphigoid in infancy: case report and literature review. Pediatr Dermatol. 1998, 15: 108-111. 10.1046/j.1525-1470.1998.1998015108.x.CrossRefPubMed
35.
Trüeb RM, Didierjean L, Fellas A, Elias A, Borradori L: Childhood bullous pemphigoid: report of a case with characterization of the targeted antigens. J Am Acad Dermatol. 1999, 40 (2 Pt 2): 338-344. 10.1016/S0190-9622(99)70481-0.CrossRefPubMed
36.
Chimanovitch I, Hamm H, Georgi M, Kroiss M, Stolz W, Apitz C, Bröcker EB, Zillikens D: Bullous pemphigoid of childhood: autoantibodies target the same epitopes within the NC16A domain of BP180 as autoantibodies in bullous pemphigoid of adulthood. Arch Dermatol. 2000, 136: 527-532. 10.1001/archderm.136.4.527.CrossRefPubMed
37.
Segurado Rodriguez M, Guerra Tapia A, Sanchez Gomez E, Rodriguez Peralto J, Vanaclocha Sebastian F, Iglesia Diez I: Penfigoide ampolloso infantil: a propósito de dos casos. Actas Dermosifiliogr. 2000, 91: 149-152.
38.
Baykal C, Okan G, Sarica R: Childhood bullous pemphigoid developed after the first vaccination. J Am Acad Dermatol. 2001, 44 (2 Suppl): 348-350. 10.1067/mjd.2001.103034.CrossRefPubMed
39.
Petronius D, Bergman R: Bullous pemphigoid in two young infants. Pediatr Dermatol. 2002, 19: 119-121. 10.1046/j.1525-1470.2002.00054.x.CrossRefPubMed
40.
Singalavanija S, Limpongsanurak W: Immunobullous diseases in Thai children: report of 24 cases. J Med Assoc Thai. 2003, 86 (Suppl 3): S681-S688.PubMed
41.
Kuenzli S, Grimaître M, Krischer J, Saurat J-H, Calza A-M, Borradori L: Childhood bullous pemphigoid: report of a case with life-threatening course during homeopathy treatment. Pediatr Dermatol. 2004, 21: 160-163. 10.1111/j.0736-8046.2004.21215.x.CrossRefPubMed
42.
Sousa B, Mota A, Morgado H, Lopes JM, Dias JA: [Bullous pemphigoid in an infant]. Acta Med Port. 2005, 18: 159-162.PubMed
43.
Mérida C, Martínez-Escribano JA, Frías JF, Sánchez-Pedreño P, Corbalán R: [Bullous pemphigoid in an infant after vaccination]. Actas Dermosifiliogr. 2005, 96: 255-257. 10.1016/S0001-7310(05)73081-7.CrossRefPubMed
44.
Voltan E, Maeda JY, Muniz Silva MA, Maruta CW, Santi CG, de Almeida Zimbres S, Aoki V: Childhood bullous pemphigoid: report of three cases. J Dermatol. 2005, 32: 387-392. 10.1111/j.1346-8138.2005.tb00912.x.CrossRefPubMed
45.
Chiavérini C, Hamel-Teillac D, Gilbert D, Prost Y: Absence of anti-BP180 antibodies in mothers of infants with bullous pemphigoid. Br J Dermatol. 2006, 154: 839-843. 10.1111/j.1365-2133.2005.07061.x.CrossRefPubMed
46.
Xiao T, Li B, Wang Y-K, He C-D, Chen H-D: Childhood bullous pemphigoid treated by i.v. immunoglobulin. J Dermatol. 2007, 34: 650-653. 10.1111/j.1346-8138.2007.00348.x.CrossRefPubMed
47.
Sugawara N, Nagai Y, Matsushima Y, Aoyama K, Ishikawa O: Infantile bullous pemphigoid treated with intravenous immunoglobulin therapy. J Am Acad Dermatol. 2007, 57: 1084-1089. 10.1016/j.jaad.2007.08.005.CrossRefPubMed
48.
Martinez-De Pablo MI, González-Enseñat MA, Vicente A, Gilaberte M, Mascaró JM: Childhood bullous pemphigoid: clinical and immunological findings in a series of 4 cases. Arch Dermatol. 2007, 143: 215-220. 10.1001/archderm.143.2.215.CrossRefPubMed
49.
Schulze J, Bader P, Henke U, Rose MA, Zielen S: Severe bullous pemphigoid in an infant–successful treatment with rituximab. Pediatr Dermatol. 2008, 25: 462-465. 10.1111/j.1525-1470.2008.00751.x.CrossRefPubMed
50.
Belhadjali H, Youssef M, Njim L, Chaabane S, Sriha B, Chakroun M, Zakhama A, Zili J: Childhood vesicular pemphigoid mimicking severe atopic dermatitis: a case report. Cutis. 2009, 83: 182-184.PubMed
51.
Toyama T, Nakamura K, Kuramochi A, Ohyama B, Hashimoto T, Tsuchida T: Two cases of childhood bullous pemphigoid. Eur J Dermatol. 2009, 19: 368-371.PubMed
52.
Majmudar V, Herath D, O’Toole EA, Harrison A: Bullous pemphigoid of childhood: a rare disease with diagnostic and management challenges. Clin Exp Dermatol. 2010, 35: 213-214. 10.1111/j.1365-2230.2008.03091.x.CrossRefPubMed
53.
54.
Hafiji J, Bhogal B, Rytina E, Burrows NP: Bullous pemphigoid in infancy developing after the first vaccination. Clin Exp Dermatol. 2010, 35: 940-941. 10.1111/j.1365-2230.2010.03839.x.CrossRefPubMed
55.
Valdivielso-Ramos M, Velázquez D, Tortoledo A, Hernanz JM: [Infantile bullous pemphigoid developing after hexavalent, meningococcal and pneumococcal vaccinations]. An Pediatr (Barc). 2011, 75: 199-202. 10.1016/j.anpedi.2011.04.009.CrossRef
56.
Dufour C, Souillet AL, Chaneliere C, Jouen F, Bodemer C, Jullien D, Cambazard F, Joly P, Reix P: Successful management of severe infant bullous pemphigoid with omalizumab. Br J Dermatol. 2012, 166: 1140-1142. 10.1111/j.1365-2133.2011.10748.x.CrossRefPubMed
57.
Fuertes I, Luelmo J, Leal L, Romaní J, Sánchez S, Mascaró JM: Refractory childhood pemphigoid successfully treated with rituximab. Pediatr Dermatol. 2013, 30: e96-e97. 10.1111/pde.12057.CrossRefPubMed
58.
Barreau M, Stefan A, Brouard J, Leconte C, Morice C, Comoz F, Verneuil L: Infantile bullous pemphigoid. Ann Dermatol Venereol. 2012, 139: 555-558. 10.1016/j.annder.2012.05.011.CrossRefPubMed
59.
Lynch M, Devaney D, Khaw Y, O’Donnell B: Bullae of the hands, feet, and perioral area in a 3-month-old infant. Bullous Pemphigoid. Pediatr Dermatol. 2013, 30: 135-136. 10.1111/j.1525-1470.2012.01731.x.CrossRefPubMed
60.
Pai VV, Sori T, Kikkeri NN, Athanikar SB, Dinesh US, Rai V: Childhood bullous pemphigoid in a four-month-old child. Eur J Pediatr Dermatol. 2013, 23: 15-18.
61.
De la Fuente S, Hernández-Martín Á, de Lucas R, González-Enseñat MA, Vicente A, Colmenero I, González-Beato M, Suñol M, Torrelo A: Postvaccination bullous pemphigoid in infancy: report of three new cases and literature review. Pediatr Dermatol. 2013, 30: 741-744. 10.1111/pde.12231.CrossRefPubMed
62.
Marsden RA, Skeete MV, Black MM: The chronic acquired bullous diseases of childhood. Clin Exp Dermatol. 1979, 4: 227-240. 10.1111/j.1365-2230.1979.tb01623.x.CrossRefPubMed
63.
Zebede MS, Anhalt GJ, Nsouli TM, Nsouli SM, Bellanti JA: Diffuse bullous eruption in a 3-month-old infant. Ann Allergy. 1987, 58 (12–13): 63-66.
64.
Wang P, Chen X, Li R, Zhu X: A case of infantile bullous pemphigoid. Chin J Dermatovenereol. 2010, 7: 026-
65.
Purvis DJ, Bhogal BS, Harper JI: Bullous pemphigoid in an infant using complementary medicine. Clin Exp Dermatol. 2009, 34: 195-198. 10.1111/j.1365-2230.2008.02815.x.CrossRefPubMed
66.
Erbagci Z: Childhood bullous pemphigoid in association with hyperimmunoglobulin E syndrome. Pediatr Dermatol. 2008, 25: 28-33. 10.1111/j.1525-1470.2007.00577.x.CrossRefPubMed
67.
Schmidt E, Seitz CS, Benoit S, Bröcker EB, Goebeler M: Rituximab in autoimmune bullous diseases: mixed responses and adverse effects. Br J Dermatol. 2007, 156: 352-356. 10.1111/j.1365-2133.2006.07646.x.CrossRefPubMed
68.
Santos AL, Mota AV, Ramon J, Lopes JM, Azevedo F: An infant with bullous pemphigoid. Dermatol Online J. 2007, 13: 17-PubMed
69.
Nishie W: Update on the pathogenesis of bullous pemphigoid: an autoantibody-mediated blistering disease targeting collagen XVII. J Dermatol Sci. 2014, 73: 179-186. 10.1016/j.jdermsci.2013.12.001.CrossRefPubMed
70.
Bastuji-Garin S, Joly P, Lemordant P, Sparsa A, Bedane C, Delaporte E, Roujeau J-C, Bernard P, Guillaume J-C, Ingen-Housz-Oro S, Maillard H, Pauwels C, Picard-Dahan C, Dutronc Y, Richard M-A, French Study Group for Bullous Diseases: Risk factors for bullous pemphigoid in the elderly: a prospective case–control study. J Invest Dermatol. 2011, 131: 637-643. 10.1038/jid.2010.301.CrossRefPubMed
71.
Lloyd-Lavery A, Chi C-C, Wojnarowska F, Taghipour K: The associations between bullous pemphigoid and drug use: a UK case–control study. JAMA Dermatol. 2013, 149: 58-62. 10.1001/2013.jamadermatol.376.CrossRefPubMed
72.
Kneisel A, Hertl M: Autoimmune bullous skin diseases. Part 2: diagnosis and therapy. J Dtsch Dermatol Ges. 2011, 9: 927-947.PubMed
73.
Busse WW, Morgan WJ, Gergen PJ, Mitchell HE, Gern JE, Liu AH, Gruchalla RS, Kattan M, Teach SJ, Pongracic JA, Chmiel JF, Steinbach SF, Calatroni A, Togias A, Thompson KM, Szefler SJ, Sorkness CA: Randomized trial of omalizumab (anti-IgE) for asthma in inner-city children. N Engl J Med. 2011, 364: 1005-1015. 10.1056/NEJMoa1009705.CrossRefPubMedPubMedCentral
Metadata
Title
Bullous pemphigoid in infants: characteristics, diagnosis and treatment
Authors
Agnes Schwieger-Briel
Cornelia Moellmann
Birgit Mattulat
Franziska Schauer
Dimitra Kiritsi
Enno Schmidt
Cassian Sitaru
Hagen Ott
Johannes S Kern
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-014-0185-6

Other articles of this Issue 1/2014

Orphanet Journal of Rare Diseases 1/2014 Go to the issue

Review

Simpson-Golabi-Behmel syndrome types I and II

Research

Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

Research

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

Research

LC3, an autophagosome marker, is expressed on oligodendrocytes in Nasu-Hakola disease brains

Research

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Letter to the Editor

Clinical phenotypes of MAGEL2 mutations and deletions