Incontinentia pigmenti(IP), so called Bloch-Sulzberger syndrome is a rare hereditary neurocutaneous syndrome and was described first by Bardach in l925. This disorder is known as a systemic disease caused by a defect at the developmental stage of organs originated from ectoderm or mesoderm. Incontinentia pigmenti is presented by characteristic linear hyperpigmented skin lesions, often associated with central nervous system involvement, dysplasia in the dental system, and ocular abnormalities. This disorder occurs almost in female infants, usually lethal in males, inherited as X-linked dominantly. Thirty percent of the patients suffer from central nervous system complications such as mental retardation, encephalopathy, delayed development, seizure, spastic paralysis and microcephaly. We report a case of a 12 month-old female with incontinentia pigmenti who was hospitalized with linear hyperpigmented skin lesions and delayed development.
Central Nervous System ; Ectoderm ; Female ; Humans ; Incontinentia Pigmenti ; Infant ; Intellectual Disability ; Male ; Mesoderm ; Microcephaly ; Muscle Spasticity ; Neurocutaneous Syndromes ; Paralysis ; Seizures ; Skin

Capicua (CIC) is a transcriptional repressor that regulates several developmental processes. CIC deficiency results in lymphoproliferative autoimmunity accompanied by expansion of CD44hiCD62Llo effector/memory and follicular Th cell populations. Deletion of Cic alleles in hematopoietic stem cells (Vav1-Cre-mediated knockout of Cic) causes more severe autoimmunity than that caused by the knockout of Cic in CD4+CD8+ double positive thymocytes (Cd4-Cre-mediated knockout of Cic). In this study, we compared splenic CD4+ T cell activation and proliferation between whole immune cell-specific Cic-null (Cicf/f;Vav1-Cre) and T cell-specific Cic-null (Cicf/f;Cd4-Cre) mice. Hyperactivation and hyperproliferation of CD4+ T cells were more apparent in Cicf/f;Vav1-Cre mice than in Cicf/f;Cd4-Cre mice. Cicf/f;Vav1-Cre CD4+ T cells more rapidly proliferated and secreted larger amounts of IL-2 upon TCR stimulation than did Cicf/f;Cd4-Cre CD4+ T cells, while the TCR stimulation-induced activation of the TCR signaling cascade and calcium flux were comparable between them. Mixed wild-type and Cicf/f;Vav1-Cre bone marrow chimeras also exhibited more apparent hyperactivation and hyperproliferation of Cic-deficient CD4+ T cells than did mixed wild-type and Cicf/f;Cd4-Cre bone marrow chimeras. Taken together, our data demonstrate that CIC deficiency at the beginning of T cell development endows peripheral CD4+ T cells with enhanced T cell activation and proliferative capability.