Genomes and Genes
Summary: Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.
- Prietzel T, Drummer N, von Salis Soglio G. [Operative treatment of an expansive enchondroma of the distal phalanx of the thumb]. Orthopade. 2007;36:1062-5 pubmed
- Ozdemir E, Bostanci S, Akyol A, Ekmekci P, Gurgey E. Congenital malalignment of the great toenails in a pair of monozygotic twins. J Am Podiatr Med Assoc. 2005;95:398-400 pubmed..This report provides further evidence of the heritability of the disease. ..
- McLean T, Lane J, Scher R, Lesher J. Bilobed thumbnails with erythronychia. J Cutan Med Surg. 2003;7:458-9 pubmed..We present an unusual nail finding in a gentleman without any identifiable etiology. He and several family members had isolated notching of the thumbnails with a characteristic erythematous band. ..
- Feng Y, Xiao S, Ren X, Wang W, Liu A, Pan M. Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. Br J Dermatol. 2003;148:452-5 pubmed..The onset of the cysts is very early in some people within this family and the age at onset of thickened fingernails and toenails is variable within the family, implying the existence of modifying factors. ..
- Kim J, Kwon S. Correction of contracted nail deformity by distraction lengthening. Ann Plast Surg. 2008;61:153-6 pubmed publisher..Distraction lengthening along with the microvascular free toenail transfer is recommended for nail reconstructions due to its simultaneous gain of bone and soft tissue. ..
- Chi C, Wang S. Inherited accessory nail of the fifth toe cured by surgical matricectomy. Dermatol Surg. 2004;30:1177-9 pubmed..No recurrence was found 2 years after operation. The inherited accessory nail of the fifth toe was cured by surgical matricectomy. ..
- Almeida N, Serafini F, Marchiori J, Moro J. [Do you know this syndrome? Bart's syndrome]. An Bras Dermatol. 2010;85:119-21 pubmed..It is believed that congenital skin absence follows the patterns of Blaschko's lines. Treatment seeks to prevent secondary infection. Prognosis is favorable and depends upon the healing of lesions. ..
- Iorizzo M, Piraccini B, Tosti A. Nail cosmetics in nail disorders. J Cosmet Dermatol. 2007;6:53-8 pubmed..It may also be the only choice to hide nail dystrophy where the nail is irreversibly damaged. Nail cosmetics may also function at treatment for onychtillomania, nail biting, and nail ingrowing. ..
- Pergola P, Kancharla A, Riley D. Kidney transplantation during the first trimester of pregnancy: immunosuppression with mycophenolate mofetil, tacrolimus, and prednisone. Transplantation. 2001;71:994-7 pubmed..Although we do not recommend the use of mycophenolate mofetil during pregnancy based on this experience, it is reassuring to know that a successful outcome can be expected in mothers treated with MMF during pregnancy. ..
- Diba V, Holme S, Savage R, Mills C. Bilateral nail dystrophy associated with vibrating tool use. Br J Dermatol. 2003;148:173-4 pubmed
- Sierpinska T, Szarmach I, Konstantynowicz J, Szarmach J, Golebiewska M. Reduced systemic bone mineral density associated with a rare case of tooth and nail syndrome. Adv Med Sci. 2010;55:111-3 pubmed publisher..Reduced BMD and, possibly, impaired bone quality and strength may produce difficulties or even exclude such patients from future treatment with dental implants. ..
- Seitz C, van Steensel M, Frank J, Senderek J, Zerres K, Hamm H, et al. The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects. Br J Dermatol. 2007;157:801-2 pubmed
- Messikh R, Atallah L, Aubin F, Humbert P. [Botulinum toxin in disabling dermatological diseases]. Ann Dermatol Venereol. 2009;136 Suppl 4:S129-36 pubmed publisher..Endly, a case of cutis laxa was described where the patient was improved by cutaneous injections of botulinum toxin...
- Rosa D, Machado R, Martins Neto M, Sá A, Gamonal A. Hay-Wells syndrome: a case report. An Bras Dermatol. 2010;85:232-5 pubmed..We also highlight the importance of implementing multidisciplinary follow-up of these patients. ..
- Hausmann M, Keller R. [Yellow nail syndrome]. Pneumologie. 1994;48:30-3 pubmed..Up to now a causative treatment does not exist but topic tocopherol may improve the aspect of involved nails. A new study reports of good effects of oral zinc-application to nails and lymphedema. ..
- Tay Y, Weston W. Epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation: the relationship between EBS herpetiformis and EBS with mottled pigmentation. Pediatr Dermatol. 1996;13:306-9 pubmed..Our patient illustrates the clinical features of Dowling-Meara EBS with the pigmentary changes of EBS with mottled pigmentation. The relationship between EBS of Dowling-Meara and EBS with mottled pigmentation is discussed. ..
- Wester J, van Eps R, Stouthamer A, Girbes A. Critical illness onychomadesis. Intensive Care Med. 2000;26:1698-700 pubmed..We observed the development of onychomadesis in a critically ill patient with a large pulmonary abscess. This association has not been described before. ..
- Yilmaz K, Inaloz H, Unal B, Guler E. Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment. Int J Dermatol. 2002;41:170-2 pubmed..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). ..
- Mennen U, Wiese A. Fingertip injuries management with semi-occlusive dressing. J Hand Surg Br. 1993;18:416-22 pubmed..The result of 200 fingertip injuries treated with this method proves the development of a near normal pulp shape and useful epithelium within an average of 20 days. ..
- Kilmer S, Grix A, Isseroff R. Focal dermal hypoplasia: four cases with widely varying presentations. J Am Acad Dermatol. 1993;28:839-43 pubmed..These patients illustrate the classic cutaneous manifestations of FDH and the variations that can exist within a family. ..
- Thappa D, Shivaswamy K. Polyonychia in congenital onychodysplasia of the index finger (Iso and Kikuchi syndrome): a report from India. J Dermatol. 2002;29:603-5 pubmed
- Danzer E, Holzgreve W, Batukan C, Miny P, Tercanli S, Hoesli I. Myomectomy during the first trimester associated with fetal limb anomalies and hydrocephalus in a twin pregnancy. Prenat Diagn. 2001;21:848-51 pubmed..The pathophysiological relationship between placental trauma and haemodynamic alterations as a possible cause of the malformations in twin B is discussed. ..
- Dar N, Ghafoor T, Awan Z. Cutis marmorata telangiectatica congenita. J Coll Physicians Surg Pak. 2003;13:653-5 pubmed..These associated abnormalities are very rare and some have not been documented before with CMTC. The possible relationship of CMTC with Adams-Oliver syndrome is also discussed. ..
- Motley R, Finlay A. A patient with Tay's syndrome. Pediatr Dermatol. 1989;6:202-5 pubmed..Her hair shafts were brittle and showed alternating light and dark banding when examined microscopically between polarizing filters. Her hair cystine content was 4.6% (control 8.4%). ..
- Kobayashi M, Soude E, Takahashi E, Sukegawa N, Sei Y, Ito Y. [A case of nail candidiasis with severe deformities treated with oral fluconazole]. Nihon Ishinkin Gakkai Zasshi. 2008;49:217-20 pubmed..Fluconazole (100 mg/day) was administered from April 8, 2006. After 14 weeks of treatment her clinical findings had improved, however she died of multiple organ failure on July 25, 2006. ..
- Kim C, Liang M, Pfendner E, Kimonis V. What syndrome is this? Laryngo-onycho-cutaneous syndrome. Pediatr Dermatol. 2007;24:306-8 pubmed
- Connors J, Rahil A, Smith F, McLean W, Milstone L. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol. 2001;144:1058-62 pubmed..This is the first time a mutation has been described in this location in a keratin other than K14, where similar mutations cause the milder Weber-Cockayne and/or Köbner types of epidermolysis bullosa simplex. ..
- Beluffi G, Fiori P. Clinical and radiological findings in Kirner's deformity. A report of nine cases. Radiol Med. 2006;111:432-9 pubmed..Although rare, as also shown by our study, Kirner's deformity must be recognised and properly diagnosed in order to spare the subject unnecessary surgical procedures. ..
- Brun A, van Steensel M. A third case of HOPP syndrome-confirmation of the phenotype. Br J Dermatol. 2004;150:1032-3 pubmed
- Grover C, Reddy B, Uma Chaturvedi K. Diagnosis of nail psoriasis: importance of biopsy and histopathology. Br J Dermatol. 2005;153:1153-8 pubmed..Examination of the PAS-stained sections is necessary before making a histological diagnosis of nail psoriasis because onychomycosis and psoriasis may show similar histology. ..
- Flynn M, Milunsky J. Autosomal dominant syndrome resembling Coffin-Siris syndrome. Am J Med Genet A. 2006;140:1326-30 pubmed..In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. ..
- Piraccini B, Iorizzo M, Antonucci A, Tosti A. Drug-induced nail abnormalities. Expert Opin Drug Saf. 2004;3:57-65 pubmed..Drug-induced nail changes usually involve several or all of the nails. In most cases, nail abnormalities are asymptomatic, but can sometimes cause pain and impair manual activities. ..
- Meyer Heim A, Khan Y. Nail dystrophy--a clinical sign of malnutrition in the disabled child. Eur J Pediatr. 2004;163:567-8 pubmed
- Olszewska M, Wu J, Slowinska M, Rudnicka L. The 'PDA nail': traumatic nail dystrophy in habitual users of personal digital assistants. Am J Clin Dermatol. 2009;10:193-6 pubmed publisher..In conclusion, biomechanical stress resulting from overuse of PDAs may result in various types of nail dystrophy. We suggest the general term 'PDA nails' for these nail abnormalities. ..
- Abbasi N, Wang N. Doxorubicin-induced hyperpigmentation. Dermatol Online J. 2008;14:18 pubmed..A skin biopsy specimen showed pigmentary alteration. Such hyperpigmentation has been described in numerous case reports and case series and has been reported to resolve within weeks to months of cessation of doxorubicin. ..
- Chen K, Juang J, Lin J. Extreme insulin resistance syndrome. Chang Gung Med J. 2001;24:640-5 pubmed..Although a very high dose of insulin (> 10 IU/kg/day) was used, her glycemic control was very poor (HbA1c 13.8%). Pediatricians should remain alert for the manifestations of extreme insulin resistance. ..
- Sarifakioglu E, Yilmaz A, Gorpelioglu C. Nail alterations in 250 infant patients: a clinical study. J Eur Acad Dermatol Venereol. 2008;22:741-4 pubmed publisher..4%) infants. Because nail alterations could be a manifestation of systemic or dermatologic diseases in infants, fingernail and toenail examination should be a part of the paediatric dermatology examination. ..
- Natale M, Spennato P, Bocchetti A, Fratta M, Savarese L, Rotondo M. Ulcerative and mutilating variant of carpal tunnel syndrome. Acta Neurochir (Wien). 2005;147:905-8 pubmed..Clinical, neurophysiological and surgical findings are reported. The recovery of the ulcerative lesions suggests the reversibility of autonomic disturbances after surgery...
- Ming A, Happle R, Grzeschik K, Fischer G. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. Pediatr Dermatol. 2009;26:427-31 pubmed publisher..We describe the clinical features and discuss the differential diagnosis of IFAP. Our proband has benefited from treatment with acitretin...
- Milstone L, Fleckman P, Leachman S, Leigh I, Paller A, van Steensel M, et al. Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:18-20 pubmed..pachyonychia.org/Registry.html). ..
- Baden H, Mizner R. Association of congenital malalignment of the nail and a constricting band of a digit. Birth Defects Res A Clin Mol Teratol. 2003;67:202 pubmed
- Kosaka M, Kamiishi H. New strategy for the treatment and assessment of pincer nail. Plast Reconstr Surg. 2003;111:2014-9 pubmed
- Abood A, Grobbelaar A. Ectopic nail formation in the hand. J Hand Surg Br. 2005;30:488-9 pubmed..This paper reports an unusual case of ectopic nail formation, reviews the literature and proposes a simple classification of this anomaly. ..
- Swartling C, Vahlquist A. Treatment of pachyonychia congenita with plantar injections of botulinum toxin. Br J Dermatol. 2006;154:763-5 pubmed..The effect duration was 6 weeks to 6 months. Repeated injections over a 2-year period confirmed the good results, with no side-effects or tachyphylaxis noted. ..
- Parsapour K, Reep M, Mohammed L, Church A, Shwayder T. Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB. Pediatr Dermatol. 2001;18:217-22 pubmed..This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis. ..
- Baran R, Haneke E, Richert B. Pincer nails: definition and surgical treatment. Dermatol Surg. 2001;27:261-6 pubmed..Global assessment may lead in mild cases to medical therapy. Usually, however, the lateral matrix horn must be surgically removed or cauterized by phenol. Dermal grafting under the nail matrix provides excellent long-term results. ..
- Aksakal A, Akar A, Erbil H, Onder M. A new surgical therapeutic approach to pincer nail deformity. Dermatol Surg. 2001;27:55-7 pubmed..No serious complication was encountered. The cosmetic improvement was also marked and satisfactory. This new surgical approach was found to be effective and is presented as an alternative treatment modality for PND. ..
- Kang X, Sun M, Yang W, Yu M, Ju Q, Lo W, et al. [A de nono I462S mutation in the KRT6A gene is associated with pachyonychia congenita type I]. Zhonghua Yi Xue Za Zhi. 2004;84:1344-7 pubmed..The identification of this novel mutation in the KRT6A gene provides further evidence that mutation in the KRT6A gene causes PC-1 phenotype. ..
- Ishii T, Ikeda M, Oka Y. Subungual extraskeletal chondroma with finger nail deformity: case report. J Hand Surg Am. 2010;35:296-9 pubmed publisher..However, the Ki-67 (MIB-1) labeling index was less than 1%, indicating low proliferative activity; it was classified as an extraskeletal chondroma with atypical features. There was no recurrence over a 3-year postoperative period. ..
- Agarwal S, Gopal K. Supernumerary digits associated with pachyonychia congenita type I. Indian J Dermatol Venereol Leprol. 2007;73:431-2 pubmed
- Visintainer P. Onychauxic dystrophic toenails requiring debridement in Medicare patients. J Am Podiatr Med Assoc. 2004;94:77-8; author reply 76-7 pubmed