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Lipoid proteinosis in a six-year-old child.

ABSTRACT: Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins.

SUBMITTER: Nayak S

PROVIDER: S-EPMC3481908 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Lipoid proteinosis in a six-year-old child.

Nayak Surajit S Acharjya Basanti B

Indian dermatology online journal 20120101 1

Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins. ...[more]

PMID: 23130256

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Project description:BACKGROUND: Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the ECM1 gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and ECM1 gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families. METHODS: Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the fullECM1 gene. RESULTS: All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of ECM1 gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8. CONCLUSIONS: These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about ECM1 function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.

Project description:The emergence of extensively drug-resistant tuberculosis (XDR-TB) is a challenging paradigm shift faced by the TB control programs worldwide today. The treatment is further compounded with unique management difficulties faced in pediatric patients. Treatment of XDR-TB requires prolonged chemotherapy with second-line drugs which offer lesser potency and increased risk of drug-related side effects. We present a case of spinal XDR-TB in a child, managed with extended second-line antitubercular chemotherapy (ATT).A 6-year-old, Caucasian male child complained of persistent back pain for 3 weeks, with lumbar tenderness without neurodeficit. Radiographs showed fourth lumbar (L4) vertebral body collapse. Magnetic resonance imaging showed features suggestive of TB spondylodiscitis. The erythrocyte sedimentation rate (ESR) was raised. In view of the high prevalence rate of TB, on clinical suspicion, empirical first-line ATT (isoniazid + rifampicin + ethambutol + pyrazinamide) was given for 6 months, under the Revised National Tuberculosis Control Program (RNTCP). In the course of ATT, child developed iliopsoas abscess which was drained surgically. Repeat radiological evaluation showed almost complete L4 body destruction and 10 cm × 8 cm pre-vertebral abscess. ESR was further raised. Vertebral biopsy culture showed growth of Mycobacterium tuberculosis complex susceptible only to capreomycin (Cm). Second-line ATT (moxifloxacin + clofazimine + linezolid + isoniazid + amoxicillin-clavulanate + para-aminosalicylic [PAS] acid) with daily intramuscular Cm was initiated, under the RNTCP Programmatic Management of Drug-Resistant TB initiative. At 3 months, tenderness was absent, ESR decreased, and radiology showed consolidation of L3 and L5 vertebral bodies and their interspace. At 6 months, injectable Cm was stopped, oral ATT continued for 18 months. No major drug-related side effects were noted. At final follow-up, imaging showed complete L4 body absence, intact posterior elements, surrounding bony consolidation, resolution of abscess without neurodeficit, or deformity.XDR-TB should be suspected if there is clinical and/or radiological progression of TB in spite of chemotherapy or a prior history of treatment for TB. Effective treatment of XDR-TB requires a high index of suspicion and prompt, aggressive drug sensitivity-based ATT.

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Lipoid proteinosis in a six-year-old child.

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Lipoid proteinosis in a six-year-old child.

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