Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “PHIMOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 415 records · Page 23Linked to original sources

Cost analysis of neonatal circumcision in a large health maintenance organization.

PURPOSE: We studied the costs of newborn circumcision in relation to its health benefits later in life. MATERIALS AND METHODS: We conducted a retrospective database analysis using direct internal cost data from Kaiser Permanente Northern California-a large health maintenance organization-and published cost data (including the cost of medically indicated postneonatal circumcision). The study cohort consisted of 14,893 male infants born in 1996. One-way sensitivity analysis was used to demonstrate the impact of selected variables in the model. Monte Carlo analysis was used to determine the 95% confidence intervals. RESULTS: Postneonatal circumcision was 10 times as expensive as neonatal circumcision (1,921 dollars per infant vs 165 dollars per newborn), and was medically indicated for 9.6% of uncircumcised males. Cost benefits of circumcision resulted from prevention of infant urinary tract infection, balanoposthitis, phimosis, HIV infection and penile cancer. Assuming initial neonatal circumcision cost to be 200 dollars, the future health care cost offset (avoided) was calculated as 183 dollars (range 93 dollars to 303 dollars in 95% of simulations). CONCLUSIONS: Multiple lifetime medical benefits of neonatal circumcision can be achieved at little or no cost. Because postneonatal circumcision is so expensive, its rate is the most important factor determining future cost savings from newborn circumcision.

Circumcision, Male↗

Long-term cosmetic and sexual outcome of hypospadias surgery: norm related study in adolescence.

PURPOSE: Even if performed early in life, hypospadias surgery may have a significant impact on self-esteem and sexual behavior in adolescence. We evaluated the long-term cosmetic and sexual outcomes of hypospadias surgery performed in childhood. MATERIALS AND METHODS: A detailed questionnaire was mailed to 33 patients with hypospadias who were 18 to 26 years old and had undergone the first operation at age 6 years or younger. It was also mailed to 50 age matched controls. RESULTS: A total of 22 patients (66.7%) and 38 controls (76.0%) returned the questionnaire. Mean age in the hypospadias and control groups was 20.6 and 21.0 years, respectively. Eight of the 22 patients had mild hypospadias and 11 had severe hypospadias. Severity was unknown in 3 patients. Age at the first and final operations was 31 to 75 (mean 46) and 35 to 81 months (mean 53). The number of operation was 1 in 10 patients, 2 in 10 and 3 in 2. The rate of dissatisfaction with penile appearance was slightly higher in the hypospadias group than in the control group (40.9% vs 34.2%). The single reason for dissatisfaction in the hypospadias group was inadequate penile size, whereas in the control group penile size, phimosis and curvature were the major reasons for dissatisfaction (69.2%, 46.2% and 23.1%, respectively). Experience with masturbation (100% and 97.4%) and sexual intercourse (52.4% and 55.3%), and mean age at first masturbation (13.4 and 13.0 years) and first sexual intercourse (16.6 and 17.3 years) were similar in the hypospadias and control groups, respectively. CONCLUSIONS: Although patients with hypospadias had a slightly higher rate of dissatisfaction with penile size, their sexual behavior was not different from that in control subjects.

Adolescent↗

Preputial calculus: a case report.

A preputial calculus developed postoperatively in a child with epispadias. Analysis of the pathophysiological development of this lesion and a review of the literature are presented. The inert subpreputial space may become calculogenic in the presence of phimosis and urinary stasis.

Calculi↗

Evaluation of foldable intraocular lenses in patients with uveitis.

OBJECTIVE: To evaluate various foldable posterior chamber intraocular lenses (IOLs) after phacoemulsification in patients with uveitis. DESIGN: A prospective, noncomparative, interventional case series. PARTICIPANTS: Forty-nine consecutive patients (60 eyes) with various types of uveitis (anterior, n = 20; posterior, n = 1; panuveitis, n = 37, intermediate, n = 2). INTERVENTION: All patients underwent phacoemulsification with foldable posterior chamber IOL implantation. All eyes were free of active inflammation at the time of surgery. A variety of IOL biomaterials were implanted: acrylic (n = 30), silicone (n = 17), and hydrogel (n = 13). MAIN OUTCOME MEASURES: Detailed examination was performed by one masked observer. Several parameters were compared for each implant biomaterial, including level of best corrected Snellen visual acuity at final follow-up, presence of posterior synechiae, anterior capsular phimosis, posterior capsule opacification, and the degree of cellular deposits on the IOL optic. RESULTS: There were 26 males and 23 females, aged 9 to 83 years (mean, 48 years). Follow-up ranged from 1 to 33 months (mean, 17.03 months). At final follow-up, 56 eyes (93.3%) had an improvement in visual acuity compared with preoperative levels as follows: 34 eyes (56.6%) achieved an improvement of four or more Snellen lines, and 44 eyes (73.3%) achieved 20/30 or better. Giant cells, observed on the IOL optic in 19 eyes (31.7%), were most often seen on the acrylic biomaterial at the 1-month follow-up, although this was not found to be statistically significant. Scratch marks produced by the lens-introducing forceps were seen in 24 eyes (40.0%), mainly on the acrylic and hydrogel optics. Posterior capsule opacification (PCO) occurred in 49 eyes (81.7%), with only 5 eyes requiring laser capsulotomy. There was no association between PCO and the various lens biomaterials. Other causes for reduced visual acuity included glaucomatous optic neuropathy (n = 5) and cystoid macular edema (n = 8). CONCLUSIONS: The use of foldable IOLs in eyes with uveitis is safe, but the optimal biomaterial has yet to be found.

Acrylic Resins↗

Anterior capsule opacification: correlation of pathologic findings with clinical sequelae.

OBJECTIVE: To evaluate the degree of anterior capsule opacification (ACO) in human eyes obtained postmortem containing various rigid and foldable posterior chamber intraocular lens (PC-IOL) designs and compare the findings with clinical sequelae of capsular shrinkage. DESIGN: Comparative autopsy tissue study with clinicopathologic correlations. MATERIALS: Three hundred formalin-fixed human eyes containing the following PC-IOL styles were analyzed: (1) one-piece polymethyl methacrylate (PMMA) optic-PMMA haptic (n = 50), one-piece silicone-plate IOL, with large (2) or small (3) fixation holes (n = 35), (4) three-piece PMMA optic-Prolene haptic (n = 50), (5) three-piece acrylic optic-PMMA haptic (n = 55), three-piece silicone optic with PMMA (6) or polyimide (7) haptics (n = 30), and (8) three-piece silicone optic-Prolene haptic (n = 80) lenses. TESTING: The eyes were sectioned in the equatorial plane for gross examination of the capsular bag from a posterior view. The cornea and iris were then excised for evaluation from an anterior view. MAIN OUTCOME MEASURES: ACO was scored in each eye from 0 to IV, according to the degree/area of capsule opacification. Capsulorrhexis size and IOL decentration were measured with calipers. RESULTS: The overall differences among the IOL groups regarding the three parameters were significant (ACO score: P < 0.001; capsulorrhexis diameter: P = 0.036; IOL decentration: P = 0.012). Mean ACO scores were highest with the large- and small-hole one-piece silicone-plate lenses (2.543 +/- 0.950) and lowest with the three-piece acrylic optic-PMMA haptic lenses (0.600 +/- 0.710). Of 10 cases of capsulorrhexis phimosis observed in the study, 7 cases were associated with three-piece silicone optic-Prolene haptic lenses, which also presented the highest mean decentration (0.375 +/- 0.601 mm). CONCLUSIONS: Our results confirm previous histopathologic observations that the rate of ACO is the lowest with acrylic lenses and higher with plate-haptic silicone IOLs. Nevertheless, clinical sequelae of capsular shrinkage are also very important with three-piece silicone optic-Prolene haptic designs. Thus, IOL material and design are significant factors in the development of ACO, but they ultimately also influence the clinical presentation of capsular shrinkage.

Acrylic Resins↗

Lacrimal system complications in trachoma.

A clinical study of the lacrimal complications of trachoma was conducted in the eastern province of Saudi Arabia. Of the 579 Saudi Arabian patients examined, 446 (77%) showed clinical evidence of trachoma, 62 of whom had severe inactive trachoma. In this last group the following lacrimal complications were observed: dry eye syndrome, punctal phimosis, punctal occlusion, canalicular occlusion, nasolacrimal-duct obstruction, dacryocystitis, dacryocystocele, and dacryocutaneous fistula. Histopathologic examination of seven lacrimal-sac biopsies showed the same cicatrizing changes seen in 14 conjunctival biopsies.

Aged↗

Results of buccal mucosal grafting for patients with medically controlled ocular cicatricial pemphigoid.

Eyelid surgery for patients with ocular cicatricial pemphigoid is risky when there is unchecked perioperative inflammation. The authors performed buccal mucosal grafts on 42 eyelids (23 eyes) of 17 patients with ocular cicatricial pemphigoid whose disease was controlled by systemic immunosuppression. Results were graded as: improved (12 cases, 16 eyes); satisfactory (2 cases, 2 eyes); or poor (5 patients, 5 eyes). Complications included breakthrough trichiasis, surface keratinization of the graft, blepharoptosis, phimosis, depressed eyelid blink, incomplete eyelid closure, submucosal abscess formation, and persistent nonhealing epithelial defects of the cornea. Technical errors at surgery accounted for two complications. Secondary corneal ulceration developed in two patients. The immunologic aspect of the disease flared or progressed in five patients in the postoperative period and necessitated an increase or change in systemic medication for immunosuppression. Buccal mucosal grafting shows promise in temporarily rehabilitating eyelids of some ocular cicatricial pemphigoid patients whose disease is controlled by immunosuppressive therapy.

Eyelid Diseases↗

Cutaneous horns of the penis: an approach to management. Case report and review of the literature.

Cutaneous horns of the penis are rare lesions, only seventeen previous cases having been reported in the English literature. The lesions usually appear following adult circumcision for long-standing phimosis. Frequently they are unusual presentations for squamous cell carcinoma of the penis. One third of the cases of penile horns were associated with underlying malignancies; therefore prompt surgical intervention is warranted.

Aged↗

[Malignant neoplasms of the penis].

OBJECTIVE: To assess the behaviour and management of these uncommon neoplasias. MATERIAL AND METHODS: Between March 1975 and July 1999, a total of 95 malignant neoplasias of the penis were diagnosed and treated by our unit. Patients mean age was 62 years (28 to 87 years). A retrospective analysis of any associated lesions, biological behaviour of the various neoplasias, as well as therapies used is carried out. RESULTS: The squamous carcinoma of the penis (SCP) is the most frequent pathohistological entity entailing 78 cases (82%), followed by verrucous carcinoma (VC) 13 cases (13.5%), basal cells carcinoma 1 case, and melanoma, lymphoma and penile metastasis 1 case each. There is a significant presence of associated lesions with marked predominance of phimosis. The most frequent reason for the call is an injury of the penis (74 cases; 78%). Treatment was mainly partial penectomy (51 patients; 53.7%), followed by conservative treatment in 28 cases (30%). Inguinal lymphadenectomy was performed in 13 patients (14%), due to either a positive nodular biopsy or a persistent adenopathy following antibiotic therapy. CONCLUSIONS: Neoplasias showing superior biological behaviour are basal cell carcinoma of the penis, and verrucous carcinoma. Prognosis in SCP is based on pathological status and node involvement. Patients with pT1 tumours showed no metastatic adenopathies after follow-up regardless of cytological grading, and are therefore candidates to watchful waiting with regular monitoring. Melanoma of the penis is a highly aggressive tumour due to its high metastatic capacity with a poor prognosis.

Adult↗

Preliminary results of cataract extraction with implantation of a single-piece AcrySof intraocular lens.

PURPOSE: To evaluate the intraoperative and postoperative performance of the single-piece AcrySof SA30AL intraocular lens (IOL) in a series of patients after cataract surgery and IOL implantation. SETTING: Department of Ophthalmology and Neurosurgery, University of Siena, Siena, Italy. METHODS: In this prospective study, 20 patients who had phacoemulsification and implantation of a single-piece AcrySof SA30AL lens from March to April 2000 were evaluated. Assessed were control of IOL folding, ease of IOL implantation, IOL centration, intraoperative and postoperative complications, visual acuity, and anterior (ACO) and posterior (PCO) capsule opacification. RESULTS: In all cases, the IOL was easily folded, inserted, and unfolded. It remained well centered in the capsular bag, and there were no intraoperative or postoperative complications. The best corrected visual acuity after surgery was 20/40 or better in all patients. No eye developed ACO or phimosis. One eye had a well-demarcated, oval area of lens epithelial cell proliferation on the posterior capsule that did not impair visual acuity. CONCLUSIONS: Initial results indicate that the single-piece AcrySof SA30AL IOL has good biocompatibility, haptic flexibility and resistance, and stability in the capsular bag. The incidence of PCO in 1 eye could have been the result of several factors and requires further evaluation. An area of future study is the wide haptic of the lens, which may create a path for cells to proliferate as they travel from the equatorial capsule.

Acrylic Resins↗

Anterior capsule stability in eyes with intraocular lenses made of poly(methyl methacrylate), silicone, and AcrySof.

PURPOSE: To ascertain whether the movement of the anterior capsule is different with intraocular lenses (IOLs) made from different materials. SETTING: Department of Ophthalmology, St. Thomas' Hospital, London, United Kingdom. METHODS: Ninety patients had standardized extracapsular cataract extraction, continuous curvilinear capsulorhexis (CCC), and confirmed in-the-bag IOL placement performed by the same surgeon. Patients were randomized to receive a three-piece, 6.0 mm IOL made of poly(methyl methacrylate) (PMMA), silicone, or AcrySof, all with PMMA haptics, and received standardized postoperative medication. Except for material, the IOLs were of the same design. On days 7, 30, 90, 180, and 360, digitized retroillumination images were taken of the IOL. The movement of the anterior capsule between each visit was analyzed. RESULTS: The amount of anterior capsule movement was significantly less in the AcrySof lens group than in the PMMA or silicone lens groups in the first year after surgery (P = .0001). CONCLUSION: The AcrySof lens with PMMA haptics produced significantly less anterior capsule movement than PMMA or silicone lenses and thus is likely to cause less IOL decentration and capsular phimosis.

Acrylates↗

Double-optic laparoscopy. Salpingoscopy, ovarian cystoscopy and endo-ovarian surgery with the argon laser.

Salpingoscopy gives detailed visual information on the mucosal pattern of the tubal ampulla as far as the isthmoampullary junction. With experience it takes 10 minutes to perform salpingoscopy on both sides and with an additional dye test a most complete evaluation of tubal morphology and patency can be obtained during routine diagnostic laparoscopy. Comparative studies proved the technique to be superior to HSG and the laparoscopic inspection of the tubal serosa and of the fimbriae. In some instances, like a tubocornual block, only salpingoscopy can provide additional information. Eventually, with the current techniques of operative laparoscopy salpingoscopic inspection of a phimosis or even a hydrosalpinx can be performed quite easily and these findings help us in the clinical management of patients requiring either microsurgical cuff-salpingostomy (giving a more realistic chance of a spontaneous pregnancy every month) or in vitro fertilization (avoiding laparotomy). Salpingoscopy also guides us in the selection of patients for a GIFT procedure and probably provides a better estimation of the risk of ectopic pregnancy. Ovarian cystoscopy can be applied for accurate diagnosis of non-malignant ovarian cysts at the time of laparoscopy. The wall of the cyst is inspected in detail and selective biopsies are obtained. Unnecessary surgery for non-neoplastic tumours can be avoided and endometrial and cystic tumours can be treated in situ using an argon laser with minimal surgical damage to the ovarian capsule. This laser technique is under further investigation to evaluate its place in the diagnosis and conservative surgical treatment of benign ovarian cysts occurring during reproductive life.

Fallopian Tube Diseases↗

Eutectic mixture of local anesthetics in adult urology patients: an observational trial.

BACKGROUND AND OBJECTIVES: The effectiveness of EMLA eutectic mixture of local anesthetics, (ASTRA Co, France) cream in minor surgery on the penis and its acceptability in unpremedicated outpatients were assessed. METHODS: EMLA cream was applied 1 hour before surgery (fremulum plasty, circumcision or dorsal section for phimosis, and condyloma accuminatum) in addition to a subcutaneous infiltration of lidocaine 1%, just before incision in cases of circumcision. Verbal Rating Scale (VSR) was assessed during the surgery and the acceptance 15 days later by a questionnaire. RESULTS: Thirty-two patients included. In all of the cases, the application of EMLA cream was sufficient, with the exception of one (fremulum plasty). General anesthesia was used for this patient unable to tolerate the proprioceptive sensations (VRS = 0). In cases of circumcision, the subcutaneous infiltration was not experienced as painful. Eighty-eight percent of patients who answered the questionnaire confirmed that if they had to be reoperated on, they would opt for this technique of anesthesia. CONCLUSION: EMLA cream is effective in minor penile surgery in adult patients, and it is associated with subcutaneous infiltration of local anesthetic in the case of circumcision.

Adult↗

Squamous cell carcinoma of the penis: multivariate analysis of prognostic factors and natural history in monocentric study with a conservative policy.

BACKGROUND: Penile carcinoma is uncommon in Western countries. Here we report on a large series of patients with squamous cell carcinoma (SCC) of the penis, describing prognostic factors, survival and therapeutic results. PATIENTS AND METHODS: From 1973 to 1993, 102 patients with invasive SCC of the penis were treated at the Institut Gustave-Roussy. Precancerous lesions and conditions associated with penis cancer were analyzed retrospectively. Survival curves were estimated by the Kaplan-Meier method, and groups were compared for outcome by the log rank test for univariate comparisons and by Cox's proportional hazards model for multivariate analysis. RESULTS: The median age at onset was 58 years. Sixty-nine patients presented with Jackson's stage I disease, 17 with stage II and 15 with stage III. The interval between the manifestation of symptoms and the diagnosis was more than a year in 13.7% of cases. Precancerous lesions were found in 17 (16.6%) patients, and a history of phimosis was noted in 25 (24.5%). In situ and invasive carcinoma were observed together in 17 (16.6%) cases and dysplasia was associated with invasive carcinoma in eight (7.8%) further cases. Conservative treatment was administered whenever feasible. Interstitial brachytherapy was performed alone or associated with limited surgery (local excision or circumcision) in 72 (70.6%) patients. Of the 28 patients with a local relapse, nine have died of their neoplasms (32%) compared to 21 of 28 patients with lymph node relapse (75%). The median follow-up was 111 months. Disease-free survival, disease-specific survival and overall survival were, respectively, 56%, 72% and 63% at five years and 42%, 66% and 50% at 10 years. Age (P = 0.01), the N status (P < 0.00001) or palpable nodes (P < 0.0038), corpus involvement (P = 0.006) and a verrucous histology (P = 0.038) had significant prognostic relevance for survival in the univariate analysis whereas the performance status, T status and Broders' grade did not. In the multivariate analysis only two parameters, involvement of the corpus (P < 0.0001) and palpable nodes (P = 0.009), were singled out as being independent variables influencing survival. A subgroup of nine patients with verrucous histologies were distinguished by their freedom from node involvement. These patients had an excellent prognosis: all are alive and disease-free. Penile integrity was preserved during follow-up in 54 patients (52.9%), 31 of whom are still alive. Of 72 patients treated by a conservative approach including brachytherapy, long-term penile integrity was maintained in 49 (68%). CONCLUSION: Corpus involvement and clinically palpable nodes are highly statistically significant independent factors influencing overall survival. Node relapses remain a major cause of death. Thus, better management of lymph nodes is essential for improving survival even when conservative therapy is used to treat the primary.

Adult↗

T-cell predominant balanitis in a traumatic tetraplegic patient: a case report.

T-cell predominant balanitis is described in a 38 year old uncircumcised tetraplegic man whose presenting feature was non-progressive red lesions over the inner prepuce and the glans penis without signs of infection, phimosis, or meatal stenosis. There was no regional lymphadenopathy. He was not exposed to any of the high risk factors for human immunodeficiency virus infection. As the lesion did not respond to topical antibacterial, antifungal, and corticosteroid medications applied in that order, circumcision was performed. Following circumcision, the remaining lesion over the glans penis regressed completely over a period of 1 month. Histopathology of the excised prepuce revealed that both areas of normal nonkeratinizing squamous epithelium as well as areas with hyperplasia. No atypia was noted and Bowenoid changes were not seen. Immunohistochemical studies on the inflammatory infiltrate in the excised prepucial lesion using tissue proliferation markers (PCNA and MIB-1) revealed active proliferation of the band-like infiltrate shown by immunophenotyping (anti-human T cell, CD45RO, clone UCHL1 and L26, pan-B marker) to consist predominantly of T-cells, further supporting the hypothesis of a local immune-mediated inflammatory process as the final pathogenic mechanism of the penile lesion.

Adult↗

Unbalanced segregation of a complex four-break 5q23-31 insertion in the 5p13 band in a malformed child.

A rec(5)dup(5)(q23.2q31.3) inherited from a maternal ins(5)(p13.1q23.2q31.3) was detected in a 4-month-old male child who showed hypotonia, microcephaly, cardiac defects, pulmonary hypoplasia and stenosis, bilateral hydronephrosis, hydrocele, testicular hypoplasia and phimosis. Dysmorphisms were also observed. We compare the clinical characteristics of our patient with those of the previously reported dup5q cases in an attempt to define the phenotype-karyotype correlation. The maternal insertion responsible for the duplicated 5q23.2-31.3 region in the child was characterized in detail by FISH analysis, which identified a complex rearrangement involving four breakpoints (bkp's): a 5q segment excised following breakage at 5q23.2 and 5q31.3 became inverted and inserted at 5p13.1, probably coincidentally with an internal breakage at 5q23.3 causing a 180 degrees rotation of the two subsegments. The mother's karyotype was consequently defined as 46,XX, ins(5)(pter --> p13.1 Colon, two colons q23.3 --> q23.2 Colon, two colons q31.3 --> q23.3 Colon, two colons p13.1 --> q23.2 Colon, two colons q31.3 --> qter). There are clusters of Alu sequences in the genomic clones spanning all the four bkp's, suggesting their possible involvement in the rearrangement. No clinical phenotype was associated with this balanced rearrangement in the mother and a number of other carriers in the same family.

Abnormalities, Multiple↗

Microincision bimanual phacoemulsification and Thinoptx implantation through a 1.70 mm incision.

PURPOSE: To prospectively assess the efficacy of bimanual phacoemulsification and implantation of Thinoptx, an injectable intraocular lens (IOL), inserted through 1.70 mm clear corneal incision. SETTING: Department of Ophthalmology, Southend Hospital NHS Trust, UK. METHODS: A total of 50 eyes of 49 randomly selected patients with cataracts had microincision clear corneal bimanual phacoemulsification (MICS) with implantation of Thinoptx IOL in the capsular bag. All patients underwent full preoperative assessment. Postoperative assessment was carried out at 3 and 6 weeks and at 15 months. RESULTS: In all 50 cases the IOL was inserted through 1.70 mm clear corneal incision. The mean best-corrected visual acuity was 0.02 (6/6-1) at 6 weeks and was 0.17 (6/10) at the final follow-up. The mean final surgically induced astigmatism at 6 weeks was 0.0106. Coloured haloes around artificial lights were perceived by 69.23% of patients at 6 weeks and by 61.29% at the final follow-up. One patient underwent IOL exchange for this. Posterior capsular opacification was noticed in 31.26% at 6 weeks and in 64.51% at 15 months. Anterior capsular opacification was noticed in 5.26% at 6 weeks and in 16.12% at 15 months. In one patient the IOL had to be exchanged because of tilt and displacement of the IOL due to anterior capsular phimosis. CONCLUSIONS: We conclude Thinoptx can be safely inserted through 1.70 mm incision used for bimanual phacoemulsification. Distance and near visual acuity achieved with this IOL is satisfactory. There is no significant change in keratometric astigmatism following this procedure. However, posterior capsular opacification rate was significantly higher with this IOL. Haloes around light sources were significant.

Cataract↗

Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment.

A 3-year-old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively. Physical examination (Fig. 1) revealed hypopigmented, atrophic, and hyperkeratotic skin lesions surrounded by reticulate hyperpigmentation on the entire body, predominantly on the face, neck, arms, shoulders, and legs, which had been noticed initially at the age of 18 months. Dystrophic toenails, sparse and thin hair, and phimosis were also observed. Laboratory tests disclosed an isolated neutropenia (white blood cell count, 1800/mm3). Bone marrow (BM) aspiration showed a decreased myelopoiesis without myelodysplastic changes, but normal erythropoiesis, megakaryopoiesis, and normal stroma. Lymphocyte subgroups containing CD4, CD5, CD6, CD8, CD19, CD23, and CD25, and immunoglobulin G (IgG), IgM, IgA, and IgE, were in the normal range; hemoglobin F (HbF), 2.8%. Spontaneous and clastogen-induced chromosome breaks were not increased. A skin biopsy showed increased pigmentation at the basal layer, dyskeratotic epidermal cells, and marked IgM deposition and cytoid bodies and mild IgA and IgG deposits at the dermo-epidermal junction. Lactate response to glucose challenge, amino acid chromatography, and urine organic acid analysis were normal. A diagnosis of dyskeratosis congenita (DC) was made with typical skin lesions, dystrophic toenails, thin and sparse hair, and neutropenia with decreased myelopoiesis in BM. Treatment with granulocyte colony-stimulating factor (G-CSF) was considered for the neutropenia. As the increase in neutrophil count at a dose of 5 microg/kg was not adequate, 10 microg/kg G-CSF was tried (Fig. 2). With 10 microg/kg once to three times a week, a 1.8-4.8-fold increase in the absolute neutrophil count (ANC) was achieved with no side-effects. Treatment was more frequent during infection (days 22-28).

Bronchopneumonia↗