• Clinical and Experimental Pediatrics
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• v.46 no.6
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• pp.606-609
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• 2003

Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida occulta may be present, also ocular and dental abnormalities are reported. Radiologic findings are the osteopathy and striation of the long bone. We experienced a case of Goltz syndrome in a 9-year old female who was presented with right side hypotrophy, focal dermal hypoplasia, ocular(anidria, microcornea), dental(oligodontia, amelogenesis) and skeletal(syndactyly) abnormalities. Skin biopsy was performed and showed decreased expression of type I collagen gene with Northern blotting.

• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.4
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• pp.658-665
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• 2007

Oligodontia is defined as the congenital absence of six or more teeth in dentition, excluding the third molars. The prevalence of congenital missing teeth is about 1.6 to 9.6% of population and the prevalence of oligidontia is about 0.08 to 1.1%. The mandibular second premolar is the most frequently absent after the third molar, followed by the maxillary lateral incisor and upper second premolar. Females seem to be affected slightly more than males. Oligodontia may occur either in isolation, or as a part of a syndrome such as ectodermal dysplasia. Different causes are possible for oligodontia: physical obstruction or distruction of the dental lamina, space limitation, functional abnormalities of the dental epithelium, failure of induction of the underlying mesenchyme, chemotherapy, radiotherapy or genetic factor. Because oligodontia would result in esthetic and functional problems, such as facial asymmetry or occlusal disharmony, early diagnosis from clinical and radiographic examination was necessary. And appropriate treatment plan should be followed. This case report was about oral conditions and treatment of the oligodontia patients who have no specific systemic disease.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.4
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• pp.701-704
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• 2004

In this case, we would like to discuss about the single rooted deciduous mandibular first molar. The deciduous mandibular molar of a five years old boy was shown to have a single root, bilaterally. Ordinarily, the maxilary molars have three roots and the mandibular molars have two roots. However, when the hertwig's epithelial root sheath do not invaginate properly during tooth development, root fusion can occur from the absence of root separation. Molars with fused roots not only have unfavorable crown to root ratio, but also according to many reports, have higher probability of having multiple congenitally missing teeth or dens invaginatus in the maxillary incisors, consequently requiring preventive dental treatment In addition, disorders such as ectodermal dysplasia, syndactyly, clinodactyly, bluish sclera can also be related to this condition. Root fusion is known to be of autosomal recessive inheritance. Up to date, single rooted molars have been reported several times in permanent dentitions but hardly in deciduous dentition, which is the motive for this paper.

• Archives of Plastic Surgery
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• v.37 no.4
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• pp.469-472
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• 2010

Purpose: Aplasia Cutis Congenita (ACC) is a rare disease characterized by the focal defect of the skin at birth, frequently involving scalp, but it may affect any region of the body. There are no etiology known but some conditions such as intrauterine vascular ischemia, amniotic adherences and viral infections are associated. The ideal treatment for the ACC is not known. Superficial and relatively small sized defects (< $3{\times}5\;cm$) may heal spontaneously and large defects related with risks of infection and bleeding may require aggressive surgical treatment. Hyalomatrix$^{(R)}$ is a bilayer of an esterified hyaluronan scaffold beneath a silicone membrane. It has been used as a temporary dermal substitute to cover deep thickness skin defect and has physiological functions derive from the structural role in extracellular matrix and interaction with cell surface receptor. This material has been used for the wound bed pre-treatment for skin graft to follow and especially in uncooperative patient, like a newborn, this could be a efficient and aseptic way of promoting granulation without daily irritative wound care. For this reason, using Hyalomatrix$^{(R)}$ for the treatment of ACC was preferred in this paper. Methods: We report a case of a newborn with ACC of the vertex scalp and non-ossified partial skull defect. The large sized skin and skull defect ($6{\times}6\;cm$) was found with intact dura mater. No other complications such as bleeding or abnormal neurologic sign were accompanied. Escharectomy was performed and Hyalomatrix$^{(R)}$ was applied for the protection and the induction of acute wound healing for 3 months before the split-thickness skin graft. During the 3 months period, the dressing was renewed in aseptic technique for every 3 weeks. The skin graft was achieved on the healthy granulation bed. Results: The operative procedure was uneventful without necessity of blood transfusion. Postoperative physical examination revealed no additional abnormalities. Regular wound management was performed in out-patient clinic and the grafted skin was taken completely. No other problems developed during follow-up. Conclusion: Hyalomatrix$^{(R)}$ provides protective and favorable environment for wound healing. The combination of the use of Hyalomatrix$^{(R)}$ and the skin graft will be a good alternative for the ACC patients with relatively large defect on vertex.

• Clinical and Experimental Pediatrics
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• v.46 no.2
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• pp.128-136
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• 2003

Purpose : Hyper IgM syndrome(HIGM) is characterized by severe recurrent bacterial infections with decreased serum levels of IgG, IgA, and IgE but elevated IgM levels. Recently, it has been classified into three groups; HIGM1, HIGM2 and a rare form of HIGM. HIGM1 is a X-linked form of HIGM and has now been identified as a T-cell deficiency in which mutations occur in the gene that encodes the CD40 ligand molecule. HIGM2 is an autosomal recessive form of HIGM. Molecular studies have shown that the mutation of HIGM2 is in the gene that encodes activation-induced cytidine deaminase(AID). Recently, another rare form of X-linked HIGM syndrome associated with hypohydrotic ectodermal dysplasia has been identified. We encountered a patient with a varient form of HIGM2. To clarify the cause of this form of HIGM, we evaluated the peripheral B cells of this patient. Methods : The lymphocytes of the patient were prepared from peripheral blood. B cells were immortalized with the infection of EBV. Cell cycle analysis was done with the immortalized B cells of the patient. Peripheral mononuclear cells were stained with monoclonal anti-CD40L antibody. Total RNA was extracted from the peripheral mononuclear cells. After RT-PCR, direct sequencing for CD40L gene and HuAID gene were done. Immunostainings of a lymph node for CD3, CD23, CD40, Fas-L, bcl-2, BAX were done. Results : The peripheral B cells of this patient showed normal expression of CD40L molecule and normal sequencing of CD40L gene, and also normal sequencing of AID gene. Interestingly, the peripheral B cells of this patient showed a decreased population of G2/mitosis phase in cell cycles which recovered to normal with the stimulation of IL-4. Conclusion : We suspect that the cause of increased serum IgM in this patient may be from a decrease of G2/mitosis phase of the peripheral B cells, which may be from the decreased production or secretion of IL-4. Therefore, this may be a new form of HIGM.