Anaesthesia and orphan disease: management of a case of Nicolaides-Baraitser syndrome undergoing cleft palate surgery.

BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. Until now, less than 100 cases have been reported. CASE PRESENTATION: A 22-month old male infant with NCBRS underwent elective cleft palate surgery. The anaesthetists were challenged by the physiological condition of the patient: narrow face, very small mouth, mild tachypnea, slight sternal retractions, physical signs of partial monosomy 9p, and plagiocephalus, midface hypoplasia, V-shaped cleft palate, enhanced muscular hypotension, dysplastic kidneys (bilateral, estimated GFR: approx. 40 ml/m2), nocturnal oxygen demand, and combined apnea. In addition, little information was available about interaction of the NCBRS displayed by the patient and anaesthesia medications. CONCLUSIONS: The cleft palate was successfully closed using the bridge flap technique. Overall, we recommend to perform a trial video assisted laryngoscopy in the setting of spontaneous breathing with deep inhalative anaesthesia before administration of muscle relaxation to detect any airway difficulties while remaining spontaneoues breathing and protective reflexes.

Pubic Hair Restorative Surgery Using Grafts Harvested by the Nonshaven Follicular Unit Extraction Technique.

BACKGROUND: Pubic atrichosis or hypotrichosis is quite common among Korean women. Although Korean people are increasingly opening up to Western culture, pubic hair transplantation is still pursued for cultural reasons. However, many hesitate to undergo restorative surgery because follicular unit strip surgery would leave a linear donor scar, preventing patients from hiding their surgical history. Thus, follicle harvesting using nonshaven follicular unit extraction (NS-FUE), aside from many other strengths, is very useful when performing pubic restorative surgery. There has been no previous report concerning the effectiveness of NS-FUE for treating pubic atrichosis or hypotrichosis. OBJECTIVE: To investigate the effectiveness of NS-FUE when performing pubic restorative surgery. MATERIALS AND METHODS: The 50 patients who were included in the study underwent pubic hair restoration using NS-FUE between March 2014 and June 2016 at Dana Plastic Surgery Clinic (Seoul, Korea), and were followed for at least 10 months afterward. Patients and the surgeon completed a survey about donor and recipient site surgical results using a 5-point Likert scale. RESULTS: The average satisfaction scores of patients and surgeon were 4.5 and 4.6, respectively. CONCLUSION: Nonshaven follicular unit extraction is one of the most effective harvesting methods when performing restorative surgery for patients with pubic atrichosis or hypotrichosis.

[Acrokeratosis paraneoplastica Bazex 6 years prior to diagnosis of gastric cancer]. / Acrokeratosis paraneoplastica Bazex 6 Jahre vor Diagnose eines Magenkarzinoms.

BACKGROUND: Bazex's syndrome is a rare paraneoplasia that is usually associated with cancer. DIAGNOSIS: Characteristic for the disease are diffuse, psoriasis-like, acral erythema, distal hyperkeratosis and onychodystrophy. Differential diagnoses comprise psoriasis, eczema and tinea. CASE REPORT: We present the case of a 73-year-old man with acral hyperkeratosis, onychodystrophy, and diffuse palmar erythema. Gastric carcinoma was diagnosed by gastroscopy. After a gastrectomy was performed, regression of the skin lesions that the patient had been suffering from for more than 6 years was observed, confirming the diagnosis of Bazex's syndrome.

Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood ( approximately 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.

Hair transplantation to the eyebrow, eyelashes, and other parts of the body.

Since its earliest applications, hair transplantation has been used for treating not only the scalp in pattern baldness but also other parts of the body, commencing with eyebrow reconstruction. The earliest micrografts were applied to the eyebrow more than 30 years before their application to the scalp became the standard of care. Today hair transplantation is applied to a number of other areas. The principle behind transplanting these areas is the same-once transplanted, the hairs continue to grow because of the phenomenon of donor dominance. This article reviews the role and technique of hair transplantation to the eyebrows and eyelids, chest, beard and moustache, and pubic escutcheon.

Guidelines for pubic hair restoration.

BACKGROUND: Although the loss of pubic hair is a relatively frequent condition, there have been few reports about pubic hair restoration. This report aims to describe the demarcation and technical guidelines for pubic hair restoration using follicular micrografts. METHODS: Demarcation is described and based on anatomic parameters such as the level of the greater trochanters and the labium majus. The angle of micrograft insertion and direction also are described. RESULTS: The use of micrografts for pubic hair restoration is a procedure that promotes very natural results. CONCLUSIONS: The described parameters of demarcation and technical details are important issues that should be considered to obtain a natural result in pubic hair restoration.

Hair restoration surgery in patients with pubic atrichosis or hypotrichosis: review of technique and clinical consideration of 507 cases.

BACKGROUND: Pubic atrichosis or hypotrichosis is a common condition in Korean women of Mongolian origin. This results in many patients receiving hair restoration surgery, which is currently thought to be the only definitive therapy. OBJECTIVE: To pursue more natural and realistic-appearing results, to define patient characteristics, and to estimate the survival rate of transplanted pubic hair through restoration surgery, we examined our cases of pubic hair restoration surgery with single-hair grafts. METHODS: We selected 507 patients with pubic atrichosis or hypotrichosis who visited for pubic hair transplantation between March 1, 2001, and February 28, 2005. We reviewed the medical charts of the 507 patients and performed statistical analysis. We also carried out a detailed evaluation of our surgical technique to 100 patients. In addition, 20 patients, who agreed to participate in the study for survival rate, had received transplantation of 40 hairs in a 1.5 x 1.5-cm area after the angular points were tattooed. The number of hairs grown after 1 year of transplantation was counted in each case. RESULTS: Among the 507 subjects, 169(33.3%) were in their 40s. The mean (+/-SD) patient age was 41.3+/-10.8 years. Of these, 115 patients (22.7%) had pubic atrichosis, and 392 patients (77.3%) had pubic hypotrichosis. In addition, 81.7% of atrichosis patients had a family history of atrichosis or hypotrichosis. Pubic atrichosis accompanied axillary atrichosis or hypotrichosis in 60.0 and 38.2% of the cases, respectively. The most common reason for the hair restorative procedure was the subject's sense of inferiority to the same sex (73.8%). The mean number of transplanted hairs was 929.3+/-76.6. The most common design pattern that we used was modified horizontal type (87.0%). The mean survival rate of single-hair grafts on the pubis was 73.6+/-7.6%. CONCLUSION: This study suggested that pubic hair transplantation surgery is a suitable cosmetic procedure to address the inferiority complex of patients with pubic atrichosis or hypotrichosis. Knowledge of natural pubic pattern and normal physiologic features is essential to create a natural and realistic appearance in a given subject.

Hair restoration surgery in patients with hypotrichosis of the pubis: the reason and ideas for design.

BACKGROUND: Hypotrichosis of the pubis is not an uncommon condition, especially in oriental women. Besides the aesthetic problem, this condition may cause low self-esteem, social embarrassment, and psychologic problems to patients. There have been many efforts to correct this condition medically and surgically for decades. Among them hair restoration surgery is thought to be the only definitive therapeutic modality at present. OBJECTIVE: Our purpose was to show the importance of preoperative evaluation of what type of pubic hair patterns the patients may seek and thereafter to make a design based on the patients' desire and physiologic feature of pubic hair for the natural-appearing results and satisfaction of the patients. METHODS: Ten female patients were enrolled in this study aged between 23 and 48 years with pubic hair maturity index class I-III. For selection of a patients' favored pubic hair pattern, we provided photograph samples of pubic hair patterns that consisted of four types as previously documented: horizontal, sagittal, acuminate, and disperse. We restored hairless mons using a conventional one- to three-haired mini-micrograft technique. RESULTS: Five patients belonged to the pubic hair maturity index class I, four to class II, and one to class III. Seven of 10 patients wanted a horizontal (inverted triangular) type, which is most commonly seen in young females, 2 patients wanted acuminate, and 1 wanted sagittal. Eight patients underwent a single-session operation, while two others underwent operations twice. The two patients requiring two operation sessions belonged to a group of class I pubic hair and desired acuminate-type hair. Most patients were satisfied with the results of their operations. CONCLUSION: In designing a pubic hair graft, it is important to know the patients' desire and to make a design based on it for the satisfaction of the patients and for natural-appearing results. Before the procedure, dermatologic surgeons should have to consider a grafted hair line, the distribution, density, and directions of the hair shaft, and the angling of the hair to the skin.