Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 838
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size

CASE REPORT Table of Contents   
Year : 2010  |  Volume : 53  |  Issue : 2  |  Page : 302-304
Incontinentia pigmenti

1 Department of Pathology, Trauma Research Center, Baqiyatallah University of Medical Sciences, and Attending Surgeon, Azad University of Medical Sciences, Tehran, Iran
2 Department of Pathology, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3 Department of Pathology, Baqiyatallah University of Medical Sciences, Tehran, Iran

Click here for correspondence address and email

Date of Web Publication12-Jun-2010


Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genodermatosis related to the NF kappa B essential modulator (NEMO) gene with approximately 800 cases reported worldwide. It usually occurs in females characterized by cutaneous, skeletal, neurological, ocular and dental abnormalities as well as an increased risk of childhood malignancies. Herein, we report a case of IP in a 14-year-old girl emphasizing early diagnosis and adding to the current literature on the subject.

Keywords: Genodermatosis, incontinentia pigmenti, skin

How to cite this article:
Motamedi MK, Lotfi A, Azizi T, Moshref M, Farhadi S. Incontinentia pigmenti. Indian J Pathol Microbiol 2010;53:302-4

How to cite this URL:
Motamedi MK, Lotfi A, Azizi T, Moshref M, Farhadi S. Incontinentia pigmenti. Indian J Pathol Microbiol [serial online] 2010 [cited 2021 Jun 15];53:302-4. Available from: https://www.ijpmonline.org/text.asp?2010/53/2/302/64291

   Introduction Top

Incontinentia pigmenti (IP) is an uncommon hereditary X-linked dominant genodermatosis with approximately 800 cases reported worldwide. Incontinentia pigmenti or Bloch-Sulzberger syndrome presents with cutaneous, skeletal, ocular, neurological and dental abnormalities due to the genetic effect. [1],[2],[3] Hyperpigmentation is the typical feature of IP. The cutaneous lesions and pigmentation are usually the first manifestations and evolve through vesiculobullous, verrucous and pigmentary stages. [3] They are accompanied by erythematous areas presenting at birth or soon after and have a linear arrangement on the extremities and flanks; papillomatous, hypertrophic or pruritic erythematous growth on one or more of the extremities resolve spontaneously resulting in atrophy, depigmentation or both by 1 year of age or longer. [3],[4] In the third stage has a peak onset from 3-6 months; brown to gray or blue to gray macules in streaks and whorls patterns that distribute asymmetrically on the trunk or extremities progressively fade at puberty or adulthood. [3],[4],[5]

Other features include alopecia, wooly hair, nevi and nail dystrophy. Keratotic tumors in late adolescence may involute spontaneously. Several cases of IP have been associated with cancer in childhood. [3],[4],[7] Ocular abnormalities are observed in up to 30% of patients including strabismus, cataracts, optic atrophy, retinal dysfunction, blue sclera, nystagmus and blindness. Dental abnormalities include pegged incisors, anodontia or delayed eruption of teeth, gothic palate and enamel hypomineralization. [5],[6],[7],[8] More than half of all patients with IP exhibit neurologic deficits, including seizure disorders, mental retardation, spastic paralysis, ataxia and motor dysfunction. Cardiac abnormalities and musculoskeletal malformation, microcephaly, syndactyly, spina bifida, cleft lip and palate, dwarfism, spoon-shaped finger nails and toenails are also found. [5],[6],[7],[8]

We report a case with 6-year follow-up.

   Case Report Top

In 2002, an 8-year-old girl was brought in by her parents complaining of teeth discoloration and malformation. Clinical and radiographic examination of the mixed dentition showed hypoplasia with brownish discoloration in the anterior deciduous teeth, especially in the mandible. Clinical examination revealed a structural enamel abnormality in the maxillary central and lateral teeth [Figure 1]. There were many brown macular hyperpigmentation in bilateral and diffuse patterns on the skin of the neck, trunk and legs although spots of hypopigmentation were also seen between those macules [Figure 2] and [Figure 3]. Skeletal malformation of the toes and nail dystrophy were also present [Figure 4].The patient had a mild-to-moderate degrees of mental retardation, nystagmus, woolly hair and history of alopecia. Ophthalmic examination was noncontributory other than nystagmus. Three years later, (in 2005) after eruption of permanent teeth, clinical examination revealed that anterior teeth have variable morphological abnormalities, large and malformed crowns and short roots. There were noticeable huge 'Talon cusps' on the lingual surface of maxillary anterior teeth. Posterior teeth seemed normal [Figure 5]. In 2008, skin hypopigmentation seemed to have faded. Incisional biopsy was obtained from a pigmented area of leg. Microscopic examination revealed hyperpigmentation of basal cells and vacuolization. Mild melanin incontinence in the dermis layer was also present, which was indicative of IP in the pigmentation stage in conjunction with other features [Figure 6] and [Figure 7].

Although, genetic studies were not done on the patient or parents, the above findings in conjunction with other features were indicative of IP.

   Discussion Top

Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genodermatosis related to the NF kappa B essential modulator (NEMO) gene. The genetic effect causes dental cutaneous, skeletal or neurological manifestations. However, these skeletal and dental problems and their pathogenesis remain speculative. Incontinentia pigmenti, although rare in clinical practice, nevertheless presents a diagnostic and therapeutic dilemma. Carney in his extensive study of the disorder cites 198 of 306 patients (64.7%) as having some major dental deformity. [4],[5] This incidence was 65 to 90% in a Korean study. [1] The majority of patients with IP in that study, generally had other significant neurologic or skeletal deficits complicating treatment. [4] Each stage of this disorder has a typical histopathologic appearance. In the third stage, there is pronounced melanin incontinence (melanophages in the upper dermis) and vacuolization of basal cells. [4] Pale scarred areas show a reduction in melanocytes and increase in dermal collagen. Incontinentia pigmenti is primarily found in females, who comprise more than 95% of cases. [4] Because it is inherited as an X-linked dominant trait with the single unpaired gene on the X-chromosome is expressed predominantly in females. [3] However, many cases have occurred with no family history of IP, suggesting a high mutation rate. [4] Some patients show defects in neutrophil chemotaxis and lymphocyte function. Leucotriene B4 has been demonstrated in extracts of the crusted scales from vesiculobullous lesions; this may have an important role in the chemotaxis of eosinophils into the epidermis. [3] Incontinentia pigmenti can be explained as an autoimmune attack on ectodermal clones, expressing an abnormal surface antigen or as premature cell death in defective ectodermal clones. [3] Onto all cases show the same presentation or to the same degree. Our case manifested most of the signs and symptoms of IP. Initial appearance of skin lesions can be observed at birth or within the neonatal period. Therefore, the role of the clinician is early diagnosis of IP. Dental anomalies can be indicative and help identify IP. In addition long-term and close cooperation between dermatologist, pediatrician, neurologist, genetic counselors, pathologist and the dentist is important for treatment of anomalies. [1] The X-linked disorder incontinentia pigmenti (IP) with its well-defined underlying defect in the NFkappaB essential modulator (NEMO) gene and its variability in patients' phenotypes offers an excellent opportunity for expanding knowledge of the function of the NFkappaB pathway. [9] Ocular changes are very varied. Retinal vasculitis is uncommon, but can be observed. [10] It can be treated with laser photocoagulation. [10] Long-term follow-up IP is required since several cases of IP have been associated with cancer in childhood or ocular complications. [3],[9],[10]

   References Top

1.Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, et al. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006;21:474-82.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]  
2.Neville B, Damm D, Allen C, Bouquot J, editors. Oral & Maxillofacial Pathology. Philadelphia: W.B Saunders; 2002. p. 650-1.  Back to cited text no. 2      
3.Weedon D, Strulton O, Stenn KS, Golden Hersh MA, Trepeta RW. Systemic pathology. In: The skin. 3 rd ed. Churchill Livingston; 1992. P. 317 -8.  Back to cited text no. 3      
4.Vogt J, Matheson J. Incontinentia pigmenti (Bloch - Sulzberger Syndrome) a case report. Oral Surg Oral Med Oral Pathol 1991;71:454-6.  Back to cited text no. 4  [PUBMED]    
5.Hedge SK, Bhat SS, Soumya S, Pai D. Incontinentia pigmenti: A case report. J Indian Soc Pedod Pd 2006;24:24-6.  Back to cited text no. 5      
6.Wu HP, Wang YL, Chang HH, Huang GF, Guo MK. Dental anomalies in two patients with Incontinentia pigmenti. J Formos Med Assoc 2005;104:427-30.  Back to cited text no. 6  [PUBMED]    
7.Minic S, Novotny GE, Trpinac D, Obradovic M. Clinical features of Incontinentia pigmenti with emphasis on oral and dental abnormalities. Clin Oral Investig 2006;10:343-7.  Back to cited text no. 7      
8.Bentolila R, Rivera H, Sanchez-Quevedo MC. Incontinentia pigmenti: a case report. Pediatr Dent 2006;28:54-7.  Back to cited text no. 8  [PUBMED]  [FULLTEXT]  
9.Kmetz EC, Shashidhar Pai G, Burges GE. Incontinentia pigmenti with a foreshortened hand: evidence for the significance of NF kappa B in human morphogenesis. Pediatr Dermatol 2009;1:83-6.   Back to cited text no. 9      
10.El Fekih L, Hmaied W, Souissi K, Nasri H, Derbel F, Hamdi A. Incontinentia pigmenti: A rare cause of retinal vasculitis in children. Tunis Med 2008;86:1079-81.  Back to cited text no. 10  [PUBMED]    

Correspondence Address:
Mohammad Hosein Kalantar Motamedi
Africa Expressway, Golestan St., Giti Blvd. No. 11 Tehran, 19667
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.64291

Rights and Permissions


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]

This article has been cited by
1 NEMO Links Nuclear Factor-?B to Human Diseases
Gunter Maubach,Ann-Christin Schmädicke,Michael Naumann
Trends in Molecular Medicine. 2017; 23(12): 1138
[Pubmed] | [DOI]
2 Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis
Gabriela Franco Marques,Claudio Sampieri Tonello,Juliana Martins Prazeres Sousa
Anais Brasileiros de Dermatologia. 2014; 89(3): 486
[Pubmed] | [DOI]
3 Incontinentia pigmenti with ocular involvement: Two cases
Bilgili, S.G., Karadag, A.S., Karadag, R., Akdeniz, N., Bulut, G., Calka, O.
Genetic Counseling. 2012; 23(1): 57-63


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  

    Case Report
    Article Figures

 Article Access Statistics
    PDF Downloaded175    
    Comments [Add]    
    Cited by others 3    

Recommend this journal