Atypical paronychia: don't forget herpesvirus.

Paronychia is usually caused by bacterial infections. Herpetic whitlow is an acute infection of the fingers or toes caused by herpes simplex viruses and it typically presents with vesicles. We report the case of a 78-year-old woman with gingivostomatitis and atypical paronychia in several fingers without blisters.

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver. The 4.57 Mb disease locus harboured homozygous, truncating CEP19 c.194_195insA (p.Tyr65*) mutation. We also found glioma-associated oncogene homolog 1(GLI1) c.820G>C (p.Gly274Arg) in the homozygous state in most patients. In silico modelling strongly suggests that it is damaging. Also, different combinations of four possible modifier alleles in BBS-related genes were detected. Two are known modifier alleles for BBS, splicing variant CCDC28B c.330C>T and missense MKKS/BBS6 p.Ile339Val, and the others are C8ORF37/BBS21 p.Ala178Val and TMEM67/BBS14 modifier p.Asp799Asp. Some patients carry all those five known/possible modifier alleles. Such variants are highly significantly more abundant in our patients than in a control group. CONCLUSION: CEP19 encodes a centrosomal and ciliary protein, as all BBS genes do. Another truncating mutation p.Arg82* has been reported as responsible for morbid obesity in a family; however, in the family we present, not all homozygotes are obese, although some are severely obese. The variant in GLI1, encoding a transcription factor that localises to the primary cilium and nucleus and is a mediator of the sonic hedgehog pathway, possibly exacerbates disease severity when in the homozygous state.

Management of a rare presentation of Kindler disease with digital constriction bands-Case report.

Kindler disease is a type of epidermolysis bullosa associated with acral blistering, diffuse cutaneous atrophy, poikiloderma, mucosal stenosis, and photosensitivity. This is the first case report in the literature to describe constriction bands associated with Kindler disease causing ischemia of the fingertips requiring urgent release and full-thickness skin grafts. Dermatologists reviewing such patients need to be aware of this condition and refer to a children's hand surgeon early to avoid leaving patients with prolonged periods of pain.

A Rare Case of Hanhart Syndrome with Mild Developmental Delay.

Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterized by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptoms can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.

DYSKERATOSIS CONGENITA IN TWO ETHIOPIAN BROTHERS.

Dyskeratosis congenita (DKC) is a rare, progressive bone marrow failure syndrome that is characterized by the triad of reticulated skin pigmentation, nail dystrophy and oral leukoplakia. Current evidence indicates that DKC is a disease of defective telomere maintenance, ribosome deficiency and protein synthesis dysfunction. Mortality is often associated with bone marrow failure (BMF), development of malignancy and other multisystem complications of the disease. Here we report two Ethiopian brothers with classical signs and symptoms of DKC. The characteristic clinical features, laboratory findings, and clinical course of the two brothers are discussed along with relevant literature review.

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

BACKGROUND: Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable cognitive impairment, a distinct facial gestalt, obesity, and hypogonadism. Female carriers are usually not affected or only mildly affected, and so far only two females with de novo mutations or deletions in PHF6 have been reported. METHODS AND RESULTS: We performed PHF6 mutational analysis and screening for intragenic deletions and duplications by quantitative real-time PCR and multiplex ligation dependent probe amplification (MLPA) in female patients with variable ID and a distinct appearance of sparse hair, remarkable facial features, hypoplastic nails, and teeth anomalies. We detected two truncating mutations and two duplications of exons 4 and 5. Furthermore, two female patients with PHF6 deletions and a similar phenotype were identified by routine molecular karyotyping. Recently, two patients with a clinical diagnosis of Coffin-Siris syndrome in early infancy had been found to harbour mutations in PHF6, and their phenotype in advanced ages is now described. Further studies revealed skewed X-inactivation in blood lymphocytes, while it was normal in fibroblasts, thus indicating functional mosaicism. CONCLUSIONS: Our findings indicate that de novo defects in PHF6 in females result in a recognisable phenotype which might have been under-recognised so far and which comprises variable ID, a characteristic facial gestalt, hypoplastic nails, brachydactyly, clinodactyly mainly of fingers IV and V, dental anomalies, and linear skin hyperpigmentation. It shows overlap with BFLS but also additional distinct features, thus adding a new facet to this disorder.

Silicone implants for muscular wasting of first web and the hypothenar muscles.

Medial nerve and Ulnar nerve palsy are still very common in spite of MDT. While most surgeons are concerned with the function of the hand, few have paid attention to the aesthetics of it. However 'white-collar' patients are concerned about the appearance of their hands -besides the function, therefore they would like us to do something for the muscular wasting which is so common. We propose here a new technique, used for the last 10 years, and demonstrate its results.

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome (PHS) is characterized by severe mental retardation, characteristic facial features including a wide mouth and intermittent overbreathing. It is due to abnormalities of the TCF4 gene at 18q21.1 and over 50 cases have now been reported in the literature. The clinical features overlap significantly with those of Angelman, Rett, and Mowat-Wilson syndromes. We have observed prominent fetal pads as a feature in several individuals with PHS and suggested that this is a useful clinical sign which helps to distinguish PHS from other conditions in the differential diagnosis and may guide genetic testing.

Treatment of posttraumatic fingertip pain using a great toe pulp graft.

Complications of fingertip injury include pain, hyper- or dyssensitivity, cold intolerance, and fingertip atrophy. Especially in cases of soft-tissue defect or atrophy which result from crushing injury, fingertip pain often occurs when a finger touches the objects. To overcome this problem, several techniques including local flaps or free flaps were suggested. But these methods require intricate and multistaged procedures.Twelve patients who had fingertip pain with pulp atrophy were treated with pulp graft between March 2004 and March 2006. Under the local anesthesia, we made a fish-mouth incision at the most prominent portion of fingertip and elevated volar flaps. Composite tissue was harvested from the lateral aspect of great toe, and inserted between the previously elevated volar flaps. The harvested composite pulp tissue contained about 3- to 5-mm thick fat layer. Moisture dressing was performed. The visual analogue scale (VAS) was used to evaluate the degree of pain postoperatively. The follow-up period was in the range between the 12 and 24 months (average, 19 months). Pre- and postoperative differences in VAS scores were analyzed for statistical significance, using the Wilcoxon rank sum test. In addition, patients were asked about their level of satisfaction with the procedure. To evaluate the postoperative sensation of the graft, we performed the Semmes-Weinstein monofilament test, and static and dynamic 2-point discrimination test at 1 year postoperatively.The size of the graft was ranged from 276 mm (12 × 23 mm) to 750 mm (25 × 30 mm). At final follow-up review, 5 patients were very satisfied and 7 were satisfied. Atrophy of the fingertip was also improved. Fingertip pain reduced from 8.5 preoperative to 3.1 postoperative on VAS. These improvements were statistically significant. Semmes-Weinstein monofilament test was green (∼2.83) in 9 patients (75%) and blue (3.22-3.61) in 3 of 12 patients (25%). Static and dynamic 2-point discrimination test results came out as 6 and 5 mm, respectively.Composite graft applied to the fingertip is a simple technique, and gives few complications. This procedure can be performed under local anesthesia and gives a fairly high degree of satisfaction to patients. We believe this method is useful for treating fingertip pain with atrophy of pulp.

Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12). The phenotype is variable and presents a wide clinical spectrum. Most cases are characterised by thin, sparse scalp hair, distinctive facial dysmorphism, and various skeletal abnormalities, especially of the hands and feet. Characteristic facial features may include a "pear-shaped" nose, micrognathia, dental anomalies, prominent ears, elongated philtrum, and thin upper vermillion border. In most cases, affected individuals exhibit skeletal abnormalities including brachydactyly and clinodac-tyly, short metacarpals phalanges, short feet and metatarsals, and pectus carinatum and hip joint malformations. Additionally, patients may exhibit short stature. This report presents four cases of TRPS (three sporadic and one familial). Clinical presentation included typical facial features and vari-ous skeletal abnormalities. Some TRPS symptoms may mimic growth hormone deficiency and other endocrine disturbances. The aim of this article is to deliver TRPS symptomatology. The treatment of TRPS is symptomatic and supportive and requires the coordination of several specialists, including paediatricians, endocrinologists, orthopaedic surgeons, dermatologists, and medical rehabilitation and den-tal specialists. In some cases, recombinant growth hormone therapy may be necessary. Genetic counselling may be of benefit for affect-ed individuals and their families.

Ectopic acanthosis nigricans occurring in a child after syndactyly repair.

Skin grafts from the groin area were used to repair syndactyly of the fourth and fifth fingers in an 8-month-old infant with oculodentodigital dysplasia (ODD). At 12 years of age, he developed hyperpigmented velvety plaques at the repair sites. This patient is the first reported case of acanthosis nigricans (AN) occurring in a graft site after syndactyly repair. We propose the term ectopic acanthosis nigricans to describe the phenomenon of AN occurring in transplanted skin away from the original donor site.

Maxillofacial and dental manifestations in a patient with mandibulo-acral dysplasia.

Mandibulo-acral dysplasia (MAD) is a rare condition characterized by mandibular hypoplasia, acroosteolysis, delayed cranial suture closure, hypoplastic clavicles, stiff joints, dental crowding, atrophy of the skin of the hands and feet, progeroid facial appearance, alopecia and short stature. This report presents a patient with MAD, suffering from difficulty in mastication and speech, together with limited lip closure and aesthetic problems related to the clinical outcomes of the syndrome. The aim of reporting this case is to detail the first widely determined dental and maxillofacial abnormalities of a rare syndrome, mandibulo-acral dysplasia, and to contribute to the data regarding the etiology of consanguinity.

Reconstruction of the digital pulley in the monkey using biologic and nonbiologic materials.

A-2 pulleys were replaced in the hand of the nonhuman primate; on the long/little fingers the pulleys were reconstructed with a woven nylon fabric (Nitex), and on the ring/index fingers the pulleys were reconstructed with fascia lata. The opposite unoperated hand served as a control. At 2, 3, and 6 months postoperative, the animals were killed to compare the function of the reconstructed pulleys with the control pulleys of the opposite digit. Using a tensile testing machine, two parameters, work of flexion and tendon excursion, showed that both pulley reconstructions permitted minimal tendon bow-stringing and had excellent gliding function. Both materials increased in strength over time to become stronger than the control pulley. Histologic examination showed no foreign body reaction to the Nitex; excellent fibrous ingrowth into the woven nylon was seen, which matured in time. The surface of the Nitex pulley facing the tendon developed and maintained a synovial-like gliding surface. The Nitex pulley compared favorably with the fascial pulley biomechanically and histologically; both reconstructed pulleys functioned well compared with normal pulleys.

The acro-osteolysis (Hadju-Cheney) syndrome. Review of the literature and report of a case.

Acro-osteolysis ( Hadju - Cheney ) Syndrome is a rare disorder of bone metabolism characterized by progressive destruction of the distal phalangeal bone, curvature of the spine, aplasia of the facial sinuses, and persistence of the cranial sutures. The purpose of this manuscript is to focus on the description of the oro-facial and dental manifestations of the disorder.

[Reparative giant-cell granuloma of the extremities]. / Das reparative Riesenzellgranulom der Extremitäten.

Giant-cell reparative granulomas are observed not infrequently in the mandible as sharply demarcated osteolytic lesions. On the other hand, these tumour-like lesions occurring in short tubular bones are rarely reported in the literature and, so far, only 27 cases have been described. We have records of five cases in the Westphalian Bone Tumour Register. The actual occurrence is probably greater if one assumes that the lesion is caused by an intra-osseous bleeding. This pathogenic mechanism is supported by histological evidence.

Mandibular resorption due to systemic sclerosis. Case report of surgical correction of a secondary open bite deformity.

Systemic sclerosis (SSc) is a connective-tissue disorder of unknown origin causing a multisystem disease. While erosions of the distal phalanges are commonly described, resorption of the mandible has been considered an unusual finding. However, systematic radiographic screening of different groups of patients suffering from SSc revealed a resorption incidence of 20-33% of the examined mandibles. Women especially seem to be affected, and the male/female ratio is 1/7. Bilateral condylysis due to SSc has been described in seven cases, or 13.7% of the reported cases. To the best of our knowledge, this is the fourth report of surgical correction of secondary dysgnathia due to systemic sclerosis and the first with a 2-year follow-up period.

Splint therapy for trigger thumb and finger in children.

Forty-three trigger thumbs and fingers in 33 children (15 boys and 18 girls, average age 2 years and 4 months) were treated using a polyethylene splint. Affected digits included 40 thumbs, one index finger, and two middle fingers. The IP joint was stabilized in maximum extension via a strap on the dorsal side. The splint was applied only at night and during day-time naps. Twenty-four digits recovered completely in an average of 10 months, seven digits improved, and two digits required surgery. Eight patients (10 digits) dropped out of treatment. Splint therapy is effective in treating trigger thumbs and fingers in children.

Continuous blood-letting for congestion in replantation of the amputated finger.

Experimental and clinical studies have been made on the function of the venous system in the replantation of the contused severed finger. In experiments on rats replantation of severed limbs was more successful in a group treated by continuous blood-letting and anastomosis of the artery alone, compared with controls in which only the artery was anastomosed. Histologically, in the first group there was less congestion, thrombus-formation, oedema and exudative haemorrhage in the initial stage; in the reparative phase there was less granulation and the degree of muscular degeneration was very slight. Clinically, contused, severed fingers were successfully replanted when venous anastomosis was impossible or incomplete, by using the fish-mouth incision for continuous blood-letting. The resulting scar caused no problem aesthetically or functionally.

Surgical treatment of congenital metacarpal synostosis of the ring and little fingers.

Fifteen hands with congenital metacarpal fusions were treated operatively by osteotomy combined either with the use of a silicone block or a distraction device. The aim of the silicone block was to separate the fused metacarpals, but it was buried in the metacarpals at follow-up, with recurrence of fusion. By the distraction technique, 13 mm of lengthening was obtained. The average length of the little metacarpal was 88% of that of the long finger metacarpal. Both methods were effective in correcting the abduction deformity of the little finger by a mean of 34 degrees, and increasing the range of motion of the metacarpophalangeal joint to 28 degrees of active flexion. Although the distraction method took longer than the silicone block method, the final appearance of the hand was better.

Metastases to the hand from carcinoma of the lower alveolus.

A case of carcinoma of the lower alveolus metastasizing to the phalanges of the hand is reported. The possible mechanism of such metastases, the clinical and radiological features and the role of fine needle aspiration cytology are discussed.