Congenital hypohidrotic ectodermal dysplasia is a rare genodermatosis. It is characterized by hypohidrosis hypotrichosis, dental hypoplasia and characterstic facial features, which reflect a wide constellation of developmental defec of tissue from the ectoderm. We have encountered three cases of congenital hypohidrotic ectodermal dysplasia in a 28-year-old female, her new-born baby, and a 10-month-old boy with a family history. All of the three patients had hypohidrosis, hypotrichosis, defective dentition, and characterstic facial features, which were characterstic features of this disorder. In addition, they showed dry skin, sparse and thin hairs. Histopathologic findings of previous cases revealed no eccrine gland structure in the dermis with routine and immunohistochemical stainning such cytokeratin and filaggrin. We report three typical cases of hypohidrotic ectodermal dysplasia with the review of literature.
Adult ; Dentition ; Dermis ; Eccrine Glands ; Ectoderm ; Ectodermal Dysplasia 1, Anhidrotic* ; Female ; Hair ; Humans ; Hypohidrosis ; Hypotrichosis ; Infant ; Keratins ; Male ; Skin

A collodion baby is born with a tough, inelastic parchment-like membrane covering the whole body surface. As the meinbrane fissures and peels, a more characteristic ichthyosiform change is evident beneath the collodion membrane. Uncommonly, normal skin is found under it. We herein present two cases af collodion baby, which were confirmed as a sporadic case of lamellar ichthyosis and a case of lamellar exfoliation of the newborn, respectively, after long-term clinical observation. It is necessary that detailed genetical and molecular biological studies should be perforrned in order to elucidate the fur:damental, molecular changes that cause these dramatic cutaneous changes.
Collodion* ; Humans ; Ichthyosis, Lamellar ; Infant, Newborn ; Membranes ; Skin

PURPOSE: Pertussis was very common in the past, but reported cases have dramatically decreased. The improvement of vaccination programs and unreadiness of laboratory confirmation seems to have developed this situation. This study investigated the frequency of pertussis among infants with a paroxysmal cough and compared the clinical characteristics between infants with and without pertussis. METHODS: Between June and November 2006, 27 infants admitted to the hospital that were 15-90 days old with a history of a cough for more than seven days were enrolled. The cough was described as: paroxysmal, whooping, and post-tussive vomiting. PCR and cultures for Bordetella pertussis with nasopharyngeal aspirates were obtained. The patients were divided into two groups: (1) the pertussis group that had positive results by PCR or culture; (2) the control group that had negative results by PCR and culture. Clinical and laboratory characteristics were compared between the two groups. RESULTS: Among the 27 cases, five (18.5%) were finally diagnosed with pertussis. Only one out of the five pertussis cases was initially diagnosed with a pertussis-like syndrome on admission. Compared to the group without pertussis, the pertussis group had a significantly higher frequency of: no fever (P=0.043), a paroxysmal cough (P=0.040), cyanosis (P=0.001), non-immunized status for DTaP (P=0.047), normal auscultation (P=0.028), normal chest X-ray findings (P=0.027), high absolute lymphocyte count (P=0.039), and low CRP (P=0.046). The patients with the diagnosis of pertussis had a significantly longer duration of coughing (27.2+/-10.6 vs. 12.6+/-5.6 days, P=0.039). CONCLUSION: Pertussis should be suspected in any infant with typical symptoms of pertussis in addition to: a persistent cough without fever, accompanied by paroxysms or cyanosis prior to the age of DTaP immunization. Active laboratory confirmation should be carried out to confirm more cases with pertussis.
Auscultation ; Bordetella pertussis ; Cough ; Cyanosis ; Fever ; Humans ; Immunization ; Infant ; Lymphocyte Count ; Polymerase Chain Reaction ; Thorax ; Vaccination ; Vomiting ; Whooping Cough

Spindle epithelial tumor with thymus-like differentiation (SETTLE) is a very rare tumor of the thyroid gland mostly occurring in young patients. The imaging findings of SETTLE tumors are yet to be defined. However, they are usually described as well-defined heterogeneously enhanced masses on CT scan. The current case has the potential growth as compared with a 2009 chest radiography. We took into account the possibility of SETTLE in the case of a bulky mass in patients over 70 years old, particularly in the lower neck. Herein, we report a case of the oldest patient so far. The patient underwent a right lobectomy of the thyroid and mass excision. Follow-up CT scans after 6 months revealed no local recurrence. Surgery is the gold standard treatment for SETTLE. Chemotherapy and radiotherapy could be another possible option for patients with advanced stage SETTLE.
Aged* ; Drug Therapy ; Follow-Up Studies ; Humans ; Neck ; Radiography ; Radiotherapy ; Recurrence ; Thorax ; Thyroid Gland* ; Thyroid Neoplasms ; Tomography, X-Ray Computed