Papillon-lefevre syndrome: a combined approach from the dermatologist and dentist – a clinical presentation.

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Papillon-lefevre syndrome: a combined approach from the dermatologist and dentist – a clinical presentation.

Indian J Dermatol. 2011 Nov;56(6):740-3

Authors: Muppa R, Prameela B, Duddu M, Dandempally A

Abstract
Papillon-Lefevre syndrome (PLS) is a rare disease characterized by skin lesions, which includes palmar-plantar hyperkeratosis and hyperhidrosis with severe periodontal destruction involving both the primary and the permanent dentitions. It is transmitted as an autosomal-recessive condition, and consanguinity of parents is evident in about one-third of the cases. This paper describes a 13-year-old male patient who presented to the department of pedodontics, with rapidly progressing periodontitis. A general physical examination revealed scaling on the hands and feet, which had been medically diagnosed as PLS. The incidence of this rare entity is increasing in the recent times, which is associated with irreparable periodontal destruction at an early age, with not so prominent skin lesions in some cases. In such instances, the dentist has a more important role in diagnosing, treatment planning and preservation of the periodontal tissues and, at the same time, referring for the treatment of the skin lesions. This paper emphasizes the combined effort of the two specialities in order to maintain skin as well as dental conditions in health by early intervention and a synergistic treatment approach.

PMID: 22345785 [PubMed]

A randomized placebo-controlled trial of oxybutynin for the initial treatment of palmar and axillary hyperhidrosis.

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A randomized placebo-controlled trial of oxybutynin for the initial treatment of palmar and axillary hyperhidrosis.

J Vasc Surg. 2012 Jun;55(6):1696-700

Authors: Wolosker N, de Campos JR, Kauffman P, Puech-Leão P

Abstract
INTRODUCTION: Video-assisted thoracic sympathectomy provides excellent resolution of palmar and axillary hyperhidrosis but is associated with compensatory hyperhidrosis. Low doses of oxybutynin, an anticholinergic medication that competitively antagonizes the muscarinic acetylcholine receptor, can be used to treat palmar hyperhidrosis with fewer side effects.
OBJECTIVE: This study evaluated the effectiveness and patient satisfaction of oral oxybutynin at low doses (5 mg twice daily) compared with placebo for treating palmar hyperhidrosis.
METHODS: This was prospective, randomized, and controlled study. From December 2010 to February 2011, 50 consecutive patients with palmar hyperhidrosis were treated with oxybutynin or placebo. Data were collected from 50 patients, but 5 (10.0%) were lost to follow-up. During the first week, patients received 2.5 mg of oxybutynin once daily in the evening. From days 8 to 21, they received 2.5 mg twice daily, and from day 22 to the end of week 6, they received 5 mg twice daily. All patients underwent two evaluations, before and after (6 weeks) the oxybutynin treatment, using a clinical questionnaire and a clinical protocol for quality of life.
RESULTS: Palmar and axillary hyperhidrosis improved in >70% of the patients, and 47.8% of those presented great improvement. Plantar hyperhidrosis improved in >90% of the patients. Most patients (65.2%) showed improvements in their quality of life. The side effects were minor, with dry mouth being the most frequent (47.8%).
CONCLUSIONS: Treatment of palmar and axillary hyperhidrosis with oxybutynin is a good initial alternative for treatment given that it presents good results and improves quality of life.

PMID: 22341836 [PubMed – indexed for MEDLINE]

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

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A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

J Am Acad Dermatol. 2012 Oct;67(4):680-6

Authors: Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD

Abstract
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification schemes have relied on data from case series and case reports. Most patients in these reports were not genetically tested for PC.
OBJECTIVE: We sought to clarify the prevalence of clinical features associated with PC.
METHODS: We surveyed 254 individuals with confirmed keratin mutations regarding their experience with clinical findings associated with PC. Statistical comparison of the groups by keratin mutation was performed using logistic regression analysis.
RESULTS: Although the onset of clinical symptoms varied considerably among our patients, a diagnostic triad of toenail thickening, plantar keratoderma, and plantar pain was reported by 97% of patients with PC by age 10 years. Plantar pain had the most profound impact on quality of life. Other clinical findings reported by our patients included fingernail dystrophy, oral leukokeratosis, palmar keratoderma, follicular hyperkeratosis, hyperhidrosis, cysts, hoarseness, and natal teeth. We observed a higher likelihood of oral leukokeratosis in individuals harboring KRT6A mutations, and a strong association of natal teeth and cysts in carriers of a KRT17 mutation. Most keratin subgroups expressed a mixed constellation of findings historically reported as PC-1 and PC-2.
LIMITATIONS: Data were obtained through questionnaires, not by direct examination. Patients were self- or physician-referred.
CONCLUSIONS: We propose a new classification for PC based on the specific keratin gene affected to help clinicians improve their diagnostic and prognostic accuracy, correct spurious associations, and improve therapeutic development.

PMID: 22264670 [PubMed – indexed for MEDLINE]

Treatment of hyperhidrosis with botulinum toxin.

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Treatment of hyperhidrosis with botulinum toxin.

Aesthet Surg J. 2012 Feb;32(2):238-44

Authors: Doft MA, Hardy KL, Ascherman JA

Abstract
Botulinum toxin type A is a safe and effective method for treating focal hyperhidrosis, providing longer-lasting results than topical treatments without the necessity of invasive surgical procedures. Although more useful for axillary hyperhidrosis, botulinum toxin injections can also be effective in treating palmar and plantar disease. The effects of botulinum toxin last for six to nine months on average, and treatment is associated with a high satisfaction rate among patients. In this article, the authors discuss their preferred methods for treating axillary, palmar, and plantar hyperhidrosis. This article serves as guide for pretreatment evaluation, injection techniques, and posttreatment care.

PMID: 22328694 [PubMed – indexed for MEDLINE]

Evaluation of trace elements, calcium, and magnesium levels in the plasma and erythrocytes of patients with essential hyperhidrosis.

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Evaluation of trace elements, calcium, and magnesium levels in the plasma and erythrocytes of patients with essential hyperhidrosis.

Int J Dermatol. 2011 Sep;50(9):1071-4

Authors: Güder H, Karaca S, Cemek M, Kulaç M, Güder S

Abstract
BACKGROUND: Essential hyperhidrosis is a disease that expresses itself with excessive sweating in palmar, plantar, axillary, and craniofacial regions. The etiopathogenesis of the disease, which has particular importance because of leading to psychosocial morbidity, could have not been completely elucidated. In previous studies, it has been shown that oxidative stress might play a role in the pathogenesis.
AIMS: Assessing the levels of trace elements such as Se, Zn, Cu, Fe, and Mg that have an important role in oxidative stress, as well as Ca and Mg that have an important role in membrane physiology, in patients with essential hyperhidrosis.
MATERIALS AND METHODS: Blood samples taken from the patient group with essential hyperhidrosis (42) and the control group (37) were separated into plasma and erythrocytes, and the levels of the bioelements were measured by use of ICP-OES device.
RESULTS: Erythrocyte levels of Se, Fe, Cu, Zn, Ca, and Mg were detected significantly higher in patients with essential hyperhidrosis. Furthermore, plasma levels of Cu, Ca, and Mg were significantly lower in patients with essential hyperhidrosis. Plasma levels of Se, Fe, and Zn showed no statistical difference between two groups.
DISCUSSION: It was thought that the high levels of Cu and Fe in erythrocytes may play a role in increased intracellular oxidative stress, whereas the increase in Se and Zn levels may be secondary to increased oxidative stress. Low extracellular concentrations of Ca and Mg raise the thought that they play a role either enhancing the membrane excitability of eccrine sweat glands or influencing the autonomic nerve system.
CONCLUSION: The levels of trace elements, which were determined to be different from the control group, may play a role in the pathogenesis of essential hyperhidrosis either in direct relation with or without oxidative mechanisms.

PMID: 22126867 [PubMed – indexed for MEDLINE]

Thoracoscopic sympathicotomy for disabling palmar hyperhidrosis: a prospective randomized comparison between two levels.

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Thoracoscopic sympathicotomy for disabling palmar hyperhidrosis: a prospective randomized comparison between two levels.

Ann Thorac Surg. 2011 Dec;92(6):2015-9

Authors: Baumgartner FJ, Reyes M, Sarkisyan GG, Iglesias A, Reyes E

Abstract
BACKGROUND: Thoracoscopic sympathicotomy is highly effective in treating disabling palmar hyperhidrosis. The ideal level to maximize efficacy and minimize the side effect of compensatory hyperhidrosis (CH) is controversial. This study compared sympathicotomy over the second (R2) vs third (R3) costal head relative to these variables in patients with massive palmar hyperhidrosis.
METHODS: This prospective, randomized study enrolled 121 patients with disabling palmoplantar hyperhidrosis assigned to bilateral sympathicotomy (sympathetic transection), which was done over R2 in 61 (n = 122 extremities) or R3 in 60 (n = 120 extremities). Patients were questioned at 6 months and at 1 year or more to assess efficacy, side effects, and satisfaction with the procedure.
RESULTS: Sympathicotomy at R2 failed to cure palmar hyperhidrosis in 5 of 122 (4.1%) extremities, but only 2 (1.6%) were to a truly profound dripping level of recurrence. Sympathicotomy at R3 failed to cure palmar hyperhidrosis in 5 of 120 extremities (4.2%), and all were dramatic failures with dripping recurrent sweating. The patients whose palmar hyperhidrosis was not completely cured were aged 19.7 ± 2.5 vs 26.4 ± 8.0 years (p = 0.04). Two R3 patients with failure underwent three redo R2 sympathicotomies, with curative results. R2 patients showed a trend toward a higher level of CH vs R3 patients at 6 months and after 1 year. The CH severity scale was 4.7 ± 2.7 (n = 38) for R2 vs 3.8 ± 2.8 (n = 36) for R3 (p = NS) at 6 months and 4.7 ± 2.5 (n = 43) for R2 vs 3.7 ± 2.8 (n = 37) for R3 (p = NS) after 1 year. Younger age, male sex, and higher levels of preoperative and postoperative plantar sweating were predictors of failed sympathicotomy. Increased age was associated with increased CH.
CONCLUSIONS: R2 and R3 sympathicotomy for massive palmoplantar hyperhidrosis are highly effective, with low recurrence and incidences of severe CH. R2 tends to have a higher level of CH vs R3, and a higher incidence of dramatic failures is suggested in R3 patients, for which reoperation at the R2 level will likely be curative.

PMID: 22115211 [PubMed – indexed for MEDLINE]

The secretory clear cell of the eccrine sweat gland as the probable source of excess sweat production in hyperhidrosis.

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The secretory clear cell of the eccrine sweat gland as the probable source of excess sweat production in hyperhidrosis.

Exp Dermatol. 2011 Dec;20(12):1017-20

Authors: Bovell DL, MacDonald A, Meyer BA, Corbett AD, MacLaren WM, Holmes SL, Harker M

Abstract
Primary hyperhidrosis is characterized by excessive sweating in palmar, plantar and axillary body regions. Gland hypertrophy and the existence of a third type of sweat gland, the apoeccrine gland, with high fluid transporting capabilities have been suggested as possible causes. This study investigated whether sweat glands were hypertrophied in axillary hyperhidrotic patients and if mechanisms associated with fluid transport were found in all types of axillary sweat glands. The occurrence of apoeccrine sweat glands was also investigated. Axillary skin biopsies from control and hyperhidrosis patients were examined using immunohistochemistry, image analysis and immunofluorescence microscopy. Results showed that glands were not hypertrophied and that only the clear cells in the eccrine glands expressed proteins associated with fluid transport. There was no evidence of the presence of apoeccrine glands in the tissues investigated. Preliminary findings suggest the eccrine gland secretory clear cell as the main source of fluid transport in hyperhidrosis.

PMID: 21995840 [PubMed – indexed for MEDLINE]

Impact of T3 thoracoscopic sympathectomy on pupillary function: a cause of partial Horner’s syndrome?

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Impact of T3 thoracoscopic sympathectomy on pupillary function: a cause of partial Horner’s syndrome?

Surg Endosc. 2012 Apr;26(4):1146-52

Authors: Ramos R, Ureña A, Rivas F, Macia I, Rosado G, Pequeño S, Masuet C, Badia M, Miguel M, Delgado MA, Escobar I, Moya J

Abstract
BACKGROUND: Thoracoscopic bilateral sympathicolysis of the T3 sympathetic ganglia is an effective treatment for palmar hyperhidrosis, though not without potential complications and consequences such as Horner’s syndrome. The objective of our study is to evaluate the repercussion of T3 sympathetic denervation on pupillary tone in patients with primary hyperhidrosis.
METHODS: A prospective descriptive study of 25 patients (50 pupils) ranging in age from 18 to 40 years with an indication of T3 sympathectomy for palmar hyperhidrosis or palmar-plantar hyperhidrosis from 1 December 2009 to 31 December 2010 was carried out. We excluded all patients with previous eye surgery or other ocular pathologies and those with pathologies that contraindicate denervation surgery and ocular study. All patients were evaluated before surgery and at 24 h and 1 month after sympathetic denervation. Pupil/iris (P/I) ratio was measured before and after instillation of sympathicomimetic eye drops containing 1% apraclonidine.
RESULTS: No statistically significant differences were found when we compared the preoperative P/I ratio of the left eyes versus the right eyes (P = 0.917). We found statistically significant differences (P < 0.001) between the preoperative P/I ratio [0.40 mm (standard deviation, SD 0.07 mm)] and the postoperative basal ratio [0.33 (SD 0.05)] at 24 h. The P/I ratio at 24 h increased from 0.33 to 0.36 (SD 0.09), a nonsignificant increase (P = 0.45), after instillation of medicated eye drops. No differences were observed between the preoperative [0.40 (SD 0.07)] and 1-month basal values [0.38 (SD 0.07)], and instillation of apraclonidine no longer induced a hypersensitivity response.
CONCLUSIONS: T3 sympathectomy leads to subclinical pupillary dysfunction with a tendency for miosis, even though this impairment is not generally evident on standard physical examination or reported by patients. This subclinical dysfunction may be caused by injury to an undefined group of presympathetic nerve cell axons in caudocranial direction that communicate with the cervical sympathetic ganglia and whose function is mydriatic pupillary innervation.

PMID: 22044979 [PubMed – indexed for MEDLINE]

Endoscopic transthoracic limited sympathotomy for palmar-plantar hyperhidrosis: outcomes and complications during a 10-year period.

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Endoscopic transthoracic limited sympathotomy for palmar-plantar hyperhidrosis: outcomes and complications during a 10-year period.

Mayo Clin Proc. 2011 Aug;86(8):721-9

Authors: Atkinson JL, Fode-Thomas NC, Fealey RD, Eisenach JH, Goerss SJ

Abstract
OBJECTIVE: To review surgical results of endoscopic transthoracic limited sympathotomy for palmar-plantar hyperhidrosis during the past decade.
PATIENTS AND METHODS: We retrospectively reviewed 155 consecutive patients who underwent surgery from June 30, 2000, through December 31, 2009, for medically refractory palmar-plantar hyperhidrosis using a technique of T1-T2 sympathotomy disconnection, designed for successful palmar response and minimization of complications.
RESULTS: Of the 155 patients, 44 (28.4%) were male, and 111 (71.6%) were female; operative times averaged 38 minutes. No patient experienced Horner syndrome, intercostal neuralgia, or pneumothorax. The only surgical complication was hemothorax in 2 patients (1.3%); in 1 patient, it occurred immediately postoperatively and in the other patient, 10 days postoperatively; treatment in both patients was successful. All 155 patients had successful (warm and dry) palmar responses at discharge. Long-term follow-up (>3 months; mean, 40.2 months) was obtained for 148 patients (95.5%) with the following responses to surgery: 96.6% of patients experienced successful control of palmar sweating; 69.2% of patients experienced decreased axillary sweating; and 39.8% of patients experienced decreased plantar sweating. At follow-up, 5 patients had palmar sweating (3 patients, <3 months; 1 patient, 10-12 months; 1 patient, 16-18 months). Compensatory hyperhidrosis did not occur in 47 patients (31.7%); it was mild in 92 patients (62.2%), moderate in 7 patients (4.7%), and severe in 2 patients (1.3%).
CONCLUSION: In this series, a small-diameter uniportal approach has eliminated intercostal neuralgia. Selecting a T1-T2 sympathotomy yields an excellent palmar response, with a very low severe compensatory hyperhidrosis complication rate. The low failure rate was noted during 18 months of follow-up and suggests that longer follow-up is necessary in these patients.

PMID: 21803954 [PubMed – indexed for MEDLINE]

Is T3 and T6 sympathetic clipping more effective in primary palmoplantar hyperhydrosis?

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Is T3 and T6 sympathetic clipping more effective in primary palmoplantar hyperhydrosis?

Thorac Cardiovasc Surg. 2011 Sep;59(6):357-9

Authors: Gorur R, Yiyit N, Yildizhan A, Candas F, Turut H, Sen H, Isitmangil T

Abstract
OBJECTIVE: Our aim was to establish a standardized approach for patients with palmoplantar and axillary hyperhidrosis and to compare patient satisfaction and complication rates for two different operations.
MATERIALS AND METHODS: Between 2008 and 2010, 30 patients underwent conventional T3/4 clipping (group A), and 30 underwent only T3 and T6 clipping (group B). Both groups were compared with regard to compensatory sweating (CS), complications, patient satisfaction and recovery of plantar hyperhidrosis.
RESULTS: The CS rate was 60 % in group A and 47 % in group B. CS was significantly less in group B compared to group A ( P ≤ 0.001). The plantar hyperhidrosis recovery rate was higher in group B (n = 19) compared to group A (n = 13), but the difference was not statistically significant ( P ≥ 0.299). Patient satisfaction rate was 93.3 % in group A and 96.6 % in group B.
CONCLUSIONS: Our study showed that T3/6 clipping was as effective as T3/4 clipping for palmar and axillary hyperhidrosis. Our results revealed that this technique is more effective than T3/4 sympathectomy to treat plantar hyperhidrosis.

PMID: 21766277 [PubMed – indexed for MEDLINE]