Introduction

Bloch-Sulzberger syndrome or incontinentia pigmenti (IP) is considered an X-linked genodermatosis ¹. It is characterized by the presence of bullous lesions throughout the skin. It has four clinical stages: vesicularbullous, verruciform, hyperpigmented and hypopigmented. Patients rarely develop all four forms progressively, stages which sometimes overlap.

The syndrome affects various organs and is characterized by the formation of band-shaped blisters, distributed in a linear way or diversified, and which commonly appear shortly after birth². The lesions affect the skin, hair, teeth, eyes, central nervous system, among others³.

Case description

A 13-year-old female patient from Talara (Piura, Peru). She was referred to the dentistry service of the Oral Health Institute of the Central Air Force Hospital of Peru in September 2018. She had a history of multiple missing teeth since childhood. The patient reported that her left posterior lower teeth never erupted and that several teeth showed morphological alterations.

In 2007, she was referred by the neurology department to the pediatric dentistry service. The intraoral evaluation revealed 14 teeth, a thin right alveolar ridge, twisted front teeth and a reverse front bite.

Clinical characteristics

The medical history showed that given the anterior crossover, the patient underwent orthopedic treatment with a Hawley plate with expansion screw and buccal clasps for maxillary retraction (Fig. 1A and 1B). As a result, the crossover was corrected and arch perimeter was gained for the eruption of permanent teeth. In addition, in 2011, a temporary removable partial prosthesis was made to restore functionality and aesthetics. Currently, the patient seeks assistance to have her prosthesis replaced.

Fig. 1:  A. (Panoramic radiography, 2007, before placing the orthopedic appliance). B. (X-ray of the orthopedic appliance with an expansion screw, posterior to the palatal disjunction stage). 

Her medical history did not relate harmful or pathological habits; however, in 2009 the Dermatology Service of the Central Air Force Hospital reported linear hyperpigmented lesions in the arms, limbs and nasal region; no ocular or nail alterations were observed. The overall assessment showed that she was a hemodynamically stable patient, with vital functions (blood pressure, pulse, respiratory rate and temperature) within normal values, and was also asymptomatic; scar lesions in the nasal region were observed in the current dermatological evaluation (Fig. 2A, 2B and 2C).

Fig. 2: A, B, (Atrophic lesions in the nasal region that occur cumulatively). C (Protruded chin, depressed malar region). D (Multiple missing teeth, morphological alterations and persistence of deciduous teeth). E (Thin alveolar ridge at the lower right area). 

A routine odontogram was performed in the intraoral examination. Molars and premolars were missing in the posteroinferior area, as well as upper premolars on the left side (Fig. 2D and 2E); morphological alterations in teeth and persistence of primary teeth (Fig. 3A, 3B and 3C). In addition, the ridges were reduced in height and thickness; during palpation, the patient reported slight localized and short-lived pain in the right posteroinferior area. The periodontal examination showed good gingival health.

Fig. 3: A. (Agenesis and diminished ridges in sextants 1 and 6). B. (Intraoral asymmetry due to missing teeth) C. (Occlusal accommodation) D. (Current panoramic radiography). 

Radiographic features

A panoramic radiography was taken and we observed the asymmetry of the mandibular bodies, slight maxillary sinus pneumatization, apparently normal nasal septum and turbinates. Temporary teeth were observed, as well as agenesis of permanent teeth, delay in apical maturation, delay in eruption chronology and a retained tooth (Fig. 3D).

Diagnosis

The definitive medical diagnosis since childhood was Bloch-Sulzberger syndrome (incontinentia pigmenti), which was compatible with the skin and extracutaneous (dental) manifestations observed.

A comprehensive and multi-specialized treatment was planned to extract the retained tooth in the left posteroinferior area, in addition to orthodontic-prosthetic management for the rehabilitation of mastication and aesthetics.

Discussion

This case report shows the most common oral manifestations of Bloch-Sulzberger syndrome; a rare dominant hereditary alteration linked to the X chromosome¹.

The etiology of this syndrome involves pigment mosaicism, which in the past has been erroneously divided into two phases: sporadic IP (or IP1) associated with an Xp11 locus mutation, and congenital IP (or IP2) associated with the Xp28.20 region¹⁵.

This clinical case presents the oral diagnostic characteristics of incontinentia pigmenti. Typical signs like hypodontia and conical teeth were observed; tooth anomalies of number and shape that usually entail no major clinical relevance.

The following steps are essential to make a diagnosis: clinical examination (major and minor criteria); blood tests (high levels of IgE, leukocytosis, eosinophilia are usually found, as well as chemotaxis defects); anatomopathological studies (to confirm and observe free melanin grains in the hyperpigmentation zone, “eosinophilic spongiosis”, as well as dyskeratosis); alternative molecular genetic analysis is also recommended (IKBKG molecular study (NEMO) locus Xq28) ³.

The major criteria (skin manifestations) show an evolution divided into four stages: 1. vesicularbullous or inflammatory, 2. verruciform, 3. hyperpigmented, 4. hypopigmented or also referred to as atrophic. Each stage presents characteristic skin lesions, although they usually coexist and do not develop sequentially in all patients. Lesions are more common in limbs and the torso; the least affected areas are the flexion creases and the face.

Minor criteria (extracutaneous manifestations) have been reported in almost 80% of cases, but are less common in males (probably due to mosaicism)¹². These criteria include:

This case was diagnosed conducting an interdisciplinary evaluation that included consultations with dermatology, neurology and pediatric dentistry specialists. As this is a hereditary disease, it requires a detailed family history and a complete physical examination if they were not performed in other services; a genetic analysis might also be included.

This clinical case included lesions typical of the different stages of IP (hyperkeratotic lesions, accumulated brown-grey maculae, vesicles and hypopigmented maculae in different parts of the body). No neurological or ocular conditions were observed.

An interdisciplinary approach is recommended for dental management, which should include the different specialties.

Highly refined sugary products should be avoided, as they promote biofilm accumulation and the appearance and development of carious lesions and periodontal disease. The following are essential: periodic dental check-ups, fillings, topical fluoride applications and use of mouthwash.

Therapeutic alternatives will depend on etiology. Early orthopedic treatment may include the use of chin cups, facial masks, and/or class III function regulators; later, in addition to orthopedic treatment, surgical alternatives may be added to correct severe skeletal dysmorphia ^3,12,17,18 .

The partial absence of some teeth may benefit orthodontic treatment as the position of other teeth can be modified by opening spaces or closing diastemas. They can also be used as abutments for partial prostheses, using self-tapping titanium implants or miniscrews, as anchorage for retrusive and intrusive movements ^19-20.

Removable prostheses with acrylic teeth are also indicated for aesthetic reconstitution until further development of the maxillary bone can be achieved and an implant-supported prosthesis can be placed. In adults, fixed or adhesive conventional prostheses, and even dental implants, can be indicated; in these cases, it is essential to identify family patterns in order to detect the mutation ³.

In this case, the patient’s removable partial prosthesis was adapted to allow for the functional restoration of the dental arches in order to maintain the vertical space and dimension of the occlusion, facilitate mastication, avoid interfering with the child’s own development and allow for harmonious growth.

Conclusions

Bloch-Sulzberger syndrome (incontinentia pigmenti) is a rare genetic disease. Its main clinical signs and manifestations appear in the skin; however, the main extracutaneous manifestations are found in the oral cavity and both are the basis of the diagnosis. Neurological signs are the most serious in the disease and are the main prognostic factor. In this case, clinical examination, background review (medical history) and X-ray testing were used to enable the functional and aesthetic treatment, in order to have a positive impact on the patient’s quality of life and psychosocial relationships.