Incontinentia pigmenti (bloch-sulzberger syndrome)

  • Published on

  • View

  • Download

Embed Size (px)



    Lauren Hughey, MD, Amy Theos, MD, University of Alabama at Birmingham,Birmingham, AL, United States

    We present a case of a 4-month-old white male with keratitis-ichthyosis-deafness(KID) syndrome who had recurrent staphylococcus and enterococcus sepsis anddied of sepsis at 4 months of age.

    The child was born at 33 weeks; gestation secondary to premature rupture ofmembranes. He did not have a collodion membrane, bulla, or skin fragility at birth;however, he did develop diffuse erythema and scaling shortly after birth. Thedifferential diagnoses considered included KID syndrome, ectodermal dysplasia,epidermolytic hyperkeratosis, and neutral lipid storage disease. His peripheral smearwas normal. His ophthalmologic examination revealed keratitis. His initial hearingtest was abnormal, but results were questioned given the large amount of scale in hisexternal ear canals. He was treated with Aquaphor ointment, cetaphil soap, andnystatin and zinc oxide ointment to his diaper area. His course was complicated withrecurrent skin infections including staphylococcus and candida and recurrent sepsiswith staphylococcus and enterococcus. He required mechanical ventilation anddied of overwhelming sepsis at 4 months of age, having never left the hospital.

    Physical examination showed well-demarcated, erythematous, hyperkeratoticplaques diffusely distributed over the body with severe involvement of the diaperarea, including confluent erythema, maceration, and fissures. Palmoplantar kerato-derma with deep fissures was present, and all 20 nails were dystrophic and yellow.He had complete alopecia with no scalp, eyebrow, or eyelash hairs. He hadperiorbital edema as well as thickened skin of the scalp with malodorous confluenthyperkeratosis with deep ridges resembling cutis vertices gyrata. FH: negative forHEALTH-RELATED QUALITY OF LIFE IN ICHTHYOSIS PATIENTS ANDFAMILY MEMBERS

    Claudine Blanchet-Bardon, MD, Hopital Saint-Louis, Paris, France; Jeanne-MarieCorre, Association Nationale des Ichtyoses et Peaux Se`ches, Villeneuve dAscq,France; Claire Nguyen Le, MD, MPH, Pierre Fabre Medicament, Castres, France

    Ichthyoses are a heterogeneous group of hereditary skin disorders characterized bydryness, hyperkeratosis, and desquamation. The purpose of this study was toevaluate the health-related quality of life of patients with ichthyosis and theirfamilies.

    Two hundred ichthyosis patients were contacted by mail through a patientassociation. Each patient and one member of his/her family were invited tocomplete a self-administered questionnaire, which included DLQI (DermatologicalLife Quality Index) for adult patients (age $ 16 years), CDLQI (Childrens DLQI) forpediatric patients (5-15 years), and the 12-item Short-Form health survey (SF-12) forfamily members and adult patients.

    Questionnaires were returned for 84 adults (age 44 6 19 years [mean 6 SD];women, 61%) and 49 family members of adult patients (partner, 43%; mother, 41%;father, 10%); 31 children (age 10 6 3 years; girls, 52%); and 30 family members ofpediatric patients (mother, 70%; father, 17%). The adult patients had predominantlyichthyosis vulgaris (n = 29), bullous congenital ichthyosiform erythroderma (bul-lous cie) (n = 20), lamellar ichthyosis (n = 12), and X-linked recessive ichthyosis(n = 9). The pediatric patients had predominantly bullous cie (n = 8), lamellarichthyosis (n = 6), X-linked recessive ichthyosis (n = 4), and nonbullous cie (n = 3).The most frequently used treatments were products for skin moisturization orsoftening (88%), magistral preparations (42%), and retinoids (19%).The DLQI scores (maximum = 30) in adults were 9.2 6 5.8 (range, 1-26; median,8.0), with worse life quality (higher score) for bullous cie (12.6 6 5.5). The lattergroup had the lowest SF-12 physical and mental scores. The CDLQI scores inchildren were 6.76 4.8 (range, 1-20; median, 5.0), with highest mean scores for X-linked recessive ichthyosis (7.86 4.8) and bullous cie (7.56 4.2). The SF-12 did notshow negative consequences of ichthyosis on global health-related life quality offamily members.

    In conclusion, the present study reports a reduced quality of life in patients withichthyosis. The high participation of patients with bullous cie is noteworthy andshows the patients interest in a better understanding of the deleterious con-sequences of ichthyoses. The DLQI results score ichthyosis among the skin disorderswith the most harmful impact on a patients quality of life (Lewis-Jones 1995; Lewis2004). Physical and mental dimensions are altered, pointing out the need for globalmanagement of the handicaps generated by ichthyoses.

    25% sponsored by Pierre Fabre Medicament


    Maria Bussade, MD, Ane Esposti, MD, Juliana Roquini, MD, Marcio Rutowitsch,MD, PhD, Hospital dos Servidores do Estado, Rio de Janeiro, Brazil

    Incontinentia pigmenti is a complex, hereditary syndrome in which vesicular,verrucous, and pigmented cutaneous lesions are associated with developmentaldefects of the eyes, skeletal system, and central nervous system. This syndrome isdue to an X-linked dominant trait; more than 95% of the reported cases are female.The skin changes are often present at birth or have developed before the end of thefirst week of life. Three clinical stages are recognized (bullae, papular and wartylesions, and pigmentation), which may be the only abnormality. Studies indicatedthat the gene is on chromosome Xp11.2 . Our case involved a 6-month-old girl withdiffuse pigmentation ranging in color from blue-gray and slate to brown with bizarresplashed-on Chinese figure distribution since birth; some inflammatory lesionsdeveloped in areas that were already pigmented. The infant also had strabismus andmicrophthalmos as well as slow motor development. Histopathology showeddiminution and absence of pigment in the basal cells and large quantities of melaninin melanophages in the upper dermis. The epidermis was slightly acanthotic. Notreatment until presentation had been performed. This is an atypical and exuberantclinical case of incontinentia pigmenti with hyperpigmentation in a Chinese figuredistribution.

    Nothing to disclose.

    deafness. The maternal grandfather had severe dry skin and thick soles. Histologicexamination revealed church-spire orthohyperkeratosis, some parakeratosis, andplugging of follicular and eccrine ducts.

    KID syndrome was first described in 1915 by Burns. Keratitis, ichthyosis, anddeafness are the 3 main findings. The syndrome is due to a defect in the GJB2 geneencoding for connexin 26. Some familial cases have been inherited autosomaldominantly; however, the majority of cases result from spontaneous mutations.Several cases have been described in which the patients exhibited signs of immunedeficiency. No definitive abnormality has been found; however, these patients seemto have an increased incidence of fungal, bacterial, and viral infections, especiallyCandida albicans.

    Nothing to disclose.


    Yong-H Nam, MD, Young-J Seo, MD, Department of Dermatology, School ofMedicine, Chungnam National University, Daejeon, Korea; Seung-K Yang, KoreaAdvanced Institute of Science and Technology, Daejeon, Korea; Jeung-H Lee,Department of Dermatology, School of Medicine, Chungnam National University,Daejeon, Korea

    Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterizedby blistering in infancy, followed by photosensitivity and progressive poikiloderma.The molecular pathology underlying Kindler syndrome has recently been shown toinvolve loss-of-function mutations in a novel gene,KIND1, encoding kindling-1. Thisprotein is predicted to be involved in connecting the actin-cytoskeleton to theextracellular matrix. Thus far, 17 different loss-of-function mutations in KIND1 in 41families from around the world have been determined. This report describesa female patient with classic features of Kindler syndrome. Cutaneous examinationrevealed generalized poikiloderma and dry, atrophic, cigarette-paper-thin skin,especially over the dorsa of hands and feet. She also had a history of multiplecutaneous malignancies on acral areas. We isolated DNA from her whole blood anddetected two point mutations in the KIND1 gene by direct nucleotide sequencing.These mutations comprised a heterozygous sequence variant T-to-C at position 187in exon 3 and a homozygous sequence variant A-to-C at position 287 in exon 8.

    Nothing to disclose.



View more >