Treatment of keratosis pilaris and its variants: a systematic review.

INTRODUCTION: Keratosis pilaris (KP) is a common, benign skin condition of follicular hyperkeratosis. Although KP is asymptomatic, the cosmetic appearance of KP can lead to psychosocial distress among patients. New emerging treatments are increasingly being utilized. Yet, there is little to no summative data on the treatments of KP and its subtypes. OBJECTIVE: To summarize existing literature on treatments for KP and its subtypes. METHODS: A comprehensive search was performed using Pubmed/MEDLINE, Embase and Web of Science databases. The search identified 1150 non-duplicated articles, and 47 articles were included in the review. The primary outcomes measured were KP treatment type and the degree of improvement following therapy. FINDINGS: Our findings demonstrate that the most supported form of treatment for KP is laser therapy, particularly the QS:Nd YAG laser. Topical treatments - including Mineral Oil-Hydrophil Petrolat, tacrolimus, azelaic acid, and salicylic acid - are also effective at least for improving the appearance of KP. CONCLUSION: While the measured treatment outcomes varied among studies, laser therapy appears to be the most effective form of treatment. Use of topicals also improved KP lesions.

Clubfeet and congenital constriction band syndrome.

BACKGROUND: Clubfeet and constriction band syndrome is a very rare non-idiopathic condition. Treatment is often difficult and the recurrence deformity rate is high. The purpose of this study was to assess the effectiveness of Ponseti method in the treatment of congenital constriction band syndrome accompanied by clubfoot deformity and lymphedema. CASE PRESENTATION: We are presenting an interesting case of bilateral clubfeet and congenital circumferential constriction band syndrome in the lower limb. Ponseti method of correcting the congenital clubfoot deformity was applied. Constriction band release is accomplished by two stages completely excising the fibrous band and multiple two-stage Z-plasties on the right calf. CONCLUSION: The results of this study indicate that the Ponseti method of gentle, systematic manipulation and weekly cast changes is an effective treatment of non-idiopathic clubfoot distal to congenital amniotic constriction band.

Light and Laser Treatments for Keratosis Pilaris: A Systematic Review.

BACKGROUND: Keratosis pilaris (KP) is a common hereditary keratinization disorder. Keratosis pilaris rubra and KP atrophicans faciei are less frequent variants of the disease. Topical treatments often yield ineffective and temporary results. OBJECTIVE: The objective of this article is to review and assess all the studies that used light and laser devices to treat KP and its variants. MATERIAL AND METHODS: On January 15, 2017, an online search of the MEDLINE, Embase, and Cochrane databases was performed using the following combination of keywords: "keratosis pilaris" and "treatment." RESULTS: Seventeen studies related to light and laser treatments were retained for analysis. The total number of treated patients was 175. Of which, 22 patients had KP atrophicans faciei, 17 patients had KP rubra, and 136 patients had KP. CONCLUSION: Light and laser devices have been emerging as promising therapeutic options for a disfiguring disease that still lacks, until today, an effective long-term treatment.

Ayurveda management of keratosis pilaris - a case report.

OBJECTIVES: Keratosis pilaris (KP) is the condition of the skin with extensive keratin follicular plugging. It may be associated with the erythema. The upper arm extensor area, shoulders, back of neck and thighs, as well as face and the upper trunk are the areas of presentation. Available medications for KP give only symptomatic relief, while some produce serious side effects. There is no proven universal treatment for the disease that can provide complete recovery. Ayurveda management of KP is not yet reported. CASE PRESENTATION: A 26-year-old male patient, presented with main complaints started with papular lesions over his right shoulder, chest and upper back along and later with pustular lesions in the past 2 weeks. The condition was associated with redness, mild swelling and itching. The case was diagnosed as Keratosis pilaris based on its presentation, site, and pathogenesis. Also by analyzing the extent of vitiation of dosas (morbidities), the Vata kapha pitta hara line of treatment was adopted, which was accomplished in two phases i. e. Sodhana Cikitsa and Samana Cikitsa. CONCLUSION: Both internal and external treatments along with diet restrictions were found effective in arresting the pathogenesis and recovery in a short period. All the symptoms associated with the condition were completely cured with no signs of re-occurrence.

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options.

Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.

Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

Ulerythema ophryogenes: updates and insights.

Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange syndrome, Rubinstein-Taybi syndrome, and cardiofaciocutaneous (CFC) syndrome. Often presenting in pediatric patients, the pathogenesis of ulerythema ophryogenes remains unclear, though several genetic causes have been suggested. Treatment recommendations remain anecdotal, but clearance has been noted as the patient ages. Although topical agents have been the mainstay of therapy, recent advancement in laser intervention for treatment of ulerythema ophryogenes is promising.

AAC intervention using a VOCA for deaf children with multiple disabilities who received cochlear implantation.

OBJECTIVES: The aim of this study was to examine the efficacy of a new habilitation approach, augmentative and alternative communication (AAC) intervention using a voice output communication aid (VOCA), in improving speech perception, speech production, receptive vocabulary skills, and communicative behaviors in children with cochlear implants (CIs) who had multiple disabilities. METHODS: Five children with mental retardation and/or cerebral palsy who had used CIs over two years were included in this study. Five children in the control group were matched to children who had AAC intervention on the basis of the type/severity of their additional disabilities and chronological age. They had limited oral communication skills after cochlear implantation because of their limited cognition and oromotor function. The children attended the AAC intervention with parents once a week for 6 months. We evaluated their performance using formal tests, including the monosyllabic word tests, the articulation test, and the receptive vocabulary test. We also assessed parent-child interactions. We analyzed the data using a one-group pretest and posttest design. RESULTS: The mean scores of the formal tests performed in these children improved from 26% to 48% in the phoneme scores of the monosyllabic word tests, from 17% to 35% in the articulation test, and from 11 to 18.4 in the receptive vocabulary test after AAC intervention (all p < .05). Some children in the control group showed improvement in the speech perception, speech production, and receptive vocabulary tests for 6 months, but the differences did not achieve statistical significance (all p > .05). The frequency of spontaneous communicative behaviors (i.e., vocalization, gestures, and words) and imitative words significantly increased after AAC intervention (p < .05). CONCLUSIONS: AAC intervention using a VOCA was very useful and effective on improving communicative skills in children with multiple disabilities who had very limited oral communication skills after cochlear implantation.

Photopneumatic therapy for the treatment of keratosis pilaris.

BACKGROUND: Current treatment options for keratosis pilaris (KP) are limited and are often found to be unsatisfactory to patients. OBJECTIVE: Pilot study to determine if photopneumatic therapy (PPx) can improve the erythema and skin texture in KP. METHODS: Ten patients with KP were treated with one session of PPx on the upper arm and then evaluated one month later for treatment efficacy. RESULTS: Average investigator-assessed improvement was 27% in erythema and 56% in skin texture roughness. Average patient self-reported improvement was 52% in erythema and 53% in skin texture. The mean satisfaction score was 6.3 on a scale of 1 to 10 (median 7.5) and 8 out of 10 participants reported they would choose to receive PPx for their KP again in the future. LIMITATIONS: Small number of patients, short follow-up period, and lack of blinding of the examiner and the patients making recall bias possible. CONCLUSIONS: One treatment of PPx improved both the erythema and redness associated with KP over at least a one month period.

Variants of Hirschsprung disease.

Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional intestinal obstruction. Intestinal neuronal dysplasia is histologically characterized by hyperganglionosis, giant ganglia, and ectopic ganglion cells. In most intestinal neuronal dysplasia cases, conservative treatments such as laxatives and enema are sufficient. Some patients may require internal sphincter myectomy. Patients with the diagnosis of isolated hypoganglionosis show decreased numbers of nerve cells, decreased plexus area, as well as increased distance between ganglia in rectal biopsies, and resection of the affected segment has been the treatment of choice. The diagnosis of internal anal sphincter achalasia is based on abnormal rectal manometry findings, whereas rectal suction biopsies display presence of ganglion cells as well as normal acetylcholinesterase activity. Internal anal sphincter achalasia is either treated by internal sphincter myectomy or botulinum toxin injection. Megacystis microcolon intestinal hypoperistalsis is a rare condition, and the most severe form of functional intestinal obstruction in the newborn. Megacystis microcolon intestinal hypoperistalsis is characterized by massive abdominal distension caused by a largely dilated nonobstructed bladder, microcolon, and decreased or absent intestinal peristalsis. Although the outcome has improved in recent years, survivors have to be either maintained by total parenteral nutrition or have undergone multivisceral transplant. This review article summarizes the current knowledge of the aforementioned entities of variant HD.

Ultrasound-guided percutaneous drainage of neonatal pyometrocolpos under local anesthesia.

Hydrometrocolpos is an uncommon congenital disorder with cystic dilatation of the vagina and uterus that occurs as a result of accumulated secretions from the reproductive tract due to distal genital tract obstruction. Secondary infection may also occur, resulting in pyometrocolpos, a potentially lethal disease. Immediate drainage of the cystic mass in patients determined to have pyometrocolpos is required to prevent or treat uropathy and septicemia until definitive corrective surgery can be performed. We report an unusual cause of obstructive uropathy in three infants: pyometrocolpos due to lower genital tract atresia. Ultrasound-guided percutaneous drainage of the pyometrocolpos resulted in dramatically improved clinical and laboratory findings in these patients. Ultrasound-guided percutaneous drainage under local anesthesia is a simple, minimally invasive, safe, and effective procedure that facilitates later successful corrective surgery and avoids the need for more complex drainage procedures.

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation. PURPOSE: (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS phenotype, and (3) to provide an update on recommendations for diagnosis and treatment of patients with CCHS. METHODS: Committee members were invited on the basis of their expertise in CCHS and asked to review the current state of the science by independently completing literature searches. Consensus on recommendations was reached by agreement among members of the Committee. RESULTS: A review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHS and expert interpretation of the evidence for management of affected patients. CONCLUSIONS: A PHOX2B mutation is required to confirm the diagnosis of CCHS. Knowledge of the specific PHOX2B mutation aids in anticipating the CCHS phenotype severity. Parents of patients with CCHS should be tested for PHOX2B mutations. Maintaining a high index of suspicion in cases of unexplained alveolar hypoventilation will likely identify a higher incidence of milder cases of CCHS. Recommended management options aimed toward maximizing safety and optimizing neurocognitive outcome include: (1) biannual then annual in-hospital comprehensive evaluation with (i) physiologic studies during awake and asleep states to assess ventilatory needs during varying levels of activity and concentration, in all stages of sleep, with spontaneous breathing, and with artificial ventilation, and to assess ventilatory responsiveness to physiologic challenges while awake and asleep, (ii) 72-hour Holter monitoring, (iii) echocardiogram, (iv) evaluation of ANS dysregulation across all organ systems affected by the ANS, and (v) formal neurocognitive assessment; (2) barium enema or manometry and/or full thickness rectal biopsy for patients with a history of constipation; and (3) imaging for neural crest tumors in individuals at greatest risk based on PHOX2B mutation.

[Laser reflexotherapy in the combined treatment of neurogenic bladder dysfunction in children with caudal regression syndrome]. / Lazerorefleksoterapiia v kompleksnom lechenii neirogennoi disfunktsii mochevogo puzyria u detei s sindromom kaudalnoi regressii.

The authors propose to introduce low-energy laser reflexotherapy to the complex of rehabilitative therapy for children with neurogenic dysfunction of the urinary bladder. The laser causes no pain, which enables the procedure to be used in infants, eliminates unretarded contractions of a detrusor rather effectively. A continuous reproduction of this therapeutic complex can be achieved by a relatively long-term stabilization of urination in a third of the children.

The child with multiple congenital anomalies.

Specific ways to improve the delivery of comprehensive care to a family whose child has multiple congenital anomalies include the following: 1. Develop a diagnostic plan which establishes medical, psychosocial, and developmental priorities at different ages. 2. Keep lists in the front of the chart which allow easy reference regarding problems, procedures, and resources. 3. Establish communication with designated community and educational coordinators, discussing who will be rendering which services. 4. Ask the parents to keep a notebook which will serve as a repository for notes and communication, accessible to all people caring for the child. Though some of these ideas require extra time at the beginning, the time saved later can be significant.

Fetal Board: a multidisciplinary approach to management of the abnormal fetus.

A Fetal Board was established in our institution, patterned after the traditional Tumor Board, to provide prospective clinical management and comprehensive care of the pregnant woman and her abnormal fetus before, during, and after delivery. One hundred one cases qualified for registry by the Fetal Board. The diagnoses included an abnormality discovered on ultrasound evaluation from the referral source, a documented abnormal chromosomal pattern, a fetus at predictable risk for a genetic disorder, or a fetus with a known teratogenic exposure. The multidisciplinary group reviewed each case, refined the diagnoses, established management plans, and scheduled delivery timing when appropriate. The Fetal Board encouraged the collection, sharing, and comparing of information gained on abnormal fetuses before and after delivery. It also became a resource for assistance to the affected families.

[Arteriohepatic dysplasia (author's transl)]. / Die arteriohepatische Dysplasie.

Case reports of 55 patients with arteriohepatic dysplasia are evaluated (51 cases reported in the literature, 4 own cases). The main features of this syndrome are dysmorphous facial structure, peripheral pulmonic stenoses, intrahepatic cholestasis, and growth retardation secondary to the liver impairment. In addition, the patients may exhibit vertebral anomalies, retarded mental and sexual development, ocular and renal anomalies. The syndrome probably is inherited as an autosomal dominant trait with variable penetrance and expressivity. Therapeutically cholestyramine in high dosage, phenobarbital and fat-soluble vitamins may be tried.