Collagenoma of the Eyelid.

The rare case of an eyelid lesion comprised of hamartomatous dermal collagen, known as a collagenoma, is presented. Collagenomas may be sporadically acquired, or inherited as part of numerous autosomal dominant syndromes. In the appropriate clinical context, their diagnosis should prompt a thorough review of systems, systemic examination, and inquiry into family history, to assess for underlying autosomal dominant syndromes. Recognition of collagenomas may thus allow diagnosis of inherited syndromes, allowing patients to obtain appropriate genetic counseling, as well as screening and treatment of associated systemic pathology.

Genetic and orthopedic aspects of collagen disorders.

PURPOSE OF REVIEW: 'Collagens' are a family of structurally related proteins that play a wide variety of roles in the extracellular matrix. To date, there are at least 29 known types of collagen. Accordingly, abnormality in the various collagens produces a large category of diseases with heterogeneous symptoms. This review presents genetic and orthopedic aspects of type II, IX, and XI collagen disorders. RECENT FINDINGS: Although a diverse group of conditions, mutation of collagens affecting the articular cartilage typically produces an epiphyseal skeletal dysplasia phenotype. Often, the ocular or auditory systems or both are also involved. Treatment of these collagenopathies is symptomatic and individualized. Study of tissue from animal models allows examination of mutation effects on the abnormal protein structure and function. SUMMARY: The collagen superfamily comprises an important structural protein in mammalian connective tissue. Mutation of collagens produces a wide variety of genetic disorders, and those mutations affecting types II, IX, and XI collagens produce an overlapping spectrum of skeletal dysplasias. Findings range from lethal to mild, depending on the mutation of the collagen gene and its subsequent effect on the structure and/or metabolism of the resultant procollagen and/or collagen protein and its function in the body.

Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue?

Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and hearing loss. Disruption of the normal collagen pathway can lead to many changes given its critical role in the body, and can cause complications with respect to wound healing. We present a case in which a patient with Kniest dysplasia successfully underwent multiple procedures in the head and neck region including cochlear implantation, mandibular distraction, palatoplasty, and laryngotracheal reconstruction. All procedures did not have any associated complications with respect to wound healing, indicating that surgery in this population can take place as indicated and surgery should not be contraindicated or delayed.

Therapeutic angiogenesis by bone marrow implantation for critical hand ischemia in patients with peripheral arterial disease: a pilot study.

OBJECTIVE: Implantation of bone marrow mononuclear cells (BM-MNCs), including endothelial progenitor cells, into ischemic lower limbs has been shown to improve symptoms in patients with peripheral arterial diseases (PAD). This study investigated whether BM-MNC implantation (BMI) is also effective for the ischemic hands of these patients. METHODS: Seven PAD patients with hand ischemia were enrolled: six patients had thromboangiitis obliterans and one had collagen disease. All seven had symptoms involving either resting pain or non-healing ischemic ulcers of the hand. Approximately 600 mL of MNCs were separated from BM and concentrated to a final volume of 40-50 mL, which were injected into ischemic hands. Ischemic status was evaluated by measuring the digital/brachial pressure index (DBI), visual analog pain scale, and the healing of ulcers before and 6 months after BMI. RESULTS: The mean number of implanted MNCs, CD34-positive cells, and CD34,133-positive cells was 3.67 +/- 0.53 x 10(9), 4.94 +/- 2.45 x 10(7), and 2.52 +/- 1.57 x 10(7), respectively. Mean DBI in those patients was 0.15 +/- 0.30 before BMI and significantly increased to 0.67 +/- 0.19 at 6 months after BMI (p = 0.004). All patients also showed improvement of pain scale and ischemic ulcers. There was no significant correlation between the number of implanted cells and improvement in the degree of DBI or the pain scale. CONCLUSION: Autologous BMI could be a promising and safe method of therapeutic angiogenesis for critical hand ischemia in PAD patients.

Collagenoma in an African Clawed Frog (Xenopus laevis).

A 3-y-old female Xenopus laevis was reported for a gray mass on the abdomen. The frog was used for egg collection and was otherwise experimentally naïve. On physical exam, the frog was bright and active and had a firm, gray, lobulated mass (1.5 cm × 0.5 cm × 0.5 cm) in the cutaneous tissue of the left lateral abdomen. An excisional biopsy was performed under anesthesia, and the entire mass was removed and processed for histopathology. Microscopically, the dermis was greatly expanded by connective tissue with a marked decrease in the number of glands, and occasional degenerative glands were present. When stained with Masson trichrome, the excessive connective tissue stained blue, indicating that it was composed of collagen. With Verhoeff-van Gieson staining, the connective tissue stained bright red with an absence of black-staining material, demonstrating the presence of collagen and ruling out elastic fibers. In light of the morphology of the mass and the results of the special stains, the mass was diagnosed as a collagenoma. To our knowledge, this report is the first description of a collagenoma in X. laevis.

Storiform collagenoma: case report.

Storiform collagenoma is a rare tumor, which originates from the proliferation of fibroblasts that show increased production of type-I collagen. It is usually found in the face, neck and extremities, but it can also appear in the trunk, scalp and, less frequently, in the oral mucosa and the nail bed. It affects both sexes, with a slight female predominance. It may be solitary or multiple, the latter being an important marker for Cowden syndrome. It presents as a painless, solid nodular tumor that is slow-growing. It must be considered in the differential diagnosis of other well-circumscribed skin lesions, such as dermatofibroma, pleomorphic fibroma, sclerotic lipoma, fibrolipoma, giant cell collagenoma, benign fibrous histiocytoma, intradermal Spitz nevus and giant cell angiohistiocytoma.

Effective surgical therapy of esophagitis. Experience with Belsey, Hill, and Nissen operations.

During the years 1971 to 1978, 252 patients needed surgical treatment of primary or secondary esophagitis. Major operations performed were 73 Belsey Mark IV repairs, 55 Hill repairs, and 129 Nissen repairs. In the group with primary reflux, barium swallow tests and endoscopy were useful in confirming the diagnosis in patients with typical symptoms; routine biopsy, lower esophageal sphincter, manometry or an acid infusion test did not add to diagnostic certitude. If symptoms were atypical, a biopsy was helpful but manometry and acid infusion were not. Mean symptom scores in this group of patients were improved by each of the "valve-building" operations. Intraoperative dilation after mobilization of the esophagus coupled with a valve-building operation was successful in managing 26 of 29 strictures. Reoperation after an operation failed carried appreciable morbidity and mortality but resulted in good control of symptoms. Addition of a Belsey or Nissen procedure to myotomy for management of primary esophageal motility disorders diminished symptoms and did not cause disabling obstruction.

Abdominal complications of collagen vascular disease.

A retrospective study of 412 consecutive hospital admissions of patients with collagen vascular disease yielded 63 patients who were admitted for abdominal complaints. Of these 63 patients, 11 died during their admission of primary intra-abdominal pathology or a complication thereof. A significantly higher incidence of abdominal complications occurred in black women (P less than 0.01). Peritoneal signs invariably were lacking in patients who eventually died. Radiographic documentation of small bowel obstruction or gastroduodenal ulceration in these patients was particularly ominous. Rapid radiologic evaluation and early surgical intervention including diagnostic peritoneal lavage should decrease the mortality rate for these difficult patients.

Oral submucous fibrosis: a new concept in surgical management. Report of 100 cases.

Oral submucous fibrosis (OSF) is a collagen disorder commonly seen in the Indian subcontinent. A series of 100 patients is presented. All lesions were biopsied. The condition was staged into four categories. Very early and early cases were treated by local injection of triamicinolone acetonide, while advanced cases were treated by surgical intervention. A new surgical technique of a palatal island flap based on the greater palatine artery in combination with temporalis myotomoy and bilateral coronoidectomy was used in 35 cases. A follow-up ranging from 6 months to 31/2 year showed good results.

A case of eruptive collagenoma localized on the neck and shoulders.

A 78-year-old woman, who had first noticed asymptomatic eruptions on her neck and shoulders eight years earlier, presented with papules and nodules 2 to 20 mm in diameter that had a normal to white hue and were flatly elevated. These lesions were scattered and multiple, some forming confluent plaques. Histopathologically, the epidermis was slightly atrophied, and collagen fibers in the dermis were coarse and proliferated. In addition, the number of elastic fibers was slightly decreased. No complications were evident. Based on these findings, the patient was given a diagnosis of mild eruptive collagenoma, a type of connective tissue nevus according to the classification of Uitto. This case is unique in that onset was at an advanced age and that distribution was localized on the neck and shoulders.

[Transposition of the extensor indicis tendon in reconstruction of thumb extension after rupture of the extensor pollicis longus tendon]. / Die Transposition der Sehne des Extensor indicis zur Wiederherstellung der Daumenstreckung nach Ruptur der Sehne des Extensor pollicis longus.

During a period of 13 years we performed 56 extensor indicis proprius (EIP) transpositions for reconstruction of the ruptured or severed extensor pollicis longus tendon. The open injuries (n = 9) involved failed primary repair or untreated tendon injuries. The subcutaneous ruptures occurred after distal radius fractures (n = 17) or other closed injuries of the wrist (n = 10), without trauma in 14 patients and in 6 patients by rheumatoid synovialitis or collagenosis. 35 patients returned for follow-up examination 8 months to 10.5 years after operation. According to the evaluation scheme suggested by Geldmacher et al. we report 13 excellent, 19 good and 3 satisfactory results. Although several authors prefer EPL reconstruction with an intercalated tendon graft, we recommend the EIP transposition as a simple procedure with predictable satisfactory results.

[25 years of experience in the treatment of Raynaud's disease and Raynaud-like syndromes]. / 25 anni di esperienza nel trattamento della malattia di Raynaud e delle sindromi Raynaud-simili.

Reference is made to a series of 620 cases of Raynaud's phenomenon observed at the University of Milan between 1951 and 1977. The following parameters are analysed: sex, age, aetiology (where known), incidence of involvement of the four limbs, presence or otherwise of a complete sign, percentage of trophic lesions, arteriographic picture, lab examinations performed. 534 thoracic sympathectomies were performed in 464 patients with Raynaud or Raynaud-like forms. The results are described.

Occipitocervical fusion in skeletal dysplasia: a new surgical technique.

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: This study describes clinical and radiological results of a new cable technique for occipitocervical fusion (OCF) in children with skeletal dysplasia (SD). SUMMARY OF BACKGROUND DATA: Anatomical variability and poor bone quality make upper cervical surgery technically challenging in patients with SD. We present a new cable technique for OCF in children with SD when the posterior elements are not of a size or quality for other types of instrumentation. METHODS: Retrospective review of 24 patients with SD (8 boys, 16 girls) who underwent OCF between 2001 and 2011. In this technique, cables provide compression across a bone graft that is prevented from entering the canal and the graft resists excessive lordosis. Demographic and radiographical data are presented. All patients were followed for initial outcomes of surgery, and 20 patients (83%) were followed for 2 years or more for mid- and long-term outcomes. RESULTS: Mean age at surgery was 6.5 years and mean follow-up was 4.1 ± 2.4 years. This technique was used as a primary procedure in 20 and a revision procedure in 4 patients. Diagnoses included Morquio syndrome (6), spondyloepiphyseal dysplasia (9), spondyloepimetaphyseal dysplasia (5), metatropic dysplasia (3), and Kniest syndrome (1). Ten patients had upper cervical instability and features of cervical myelopathy, and the remaining 14 patients had instability and signal changes on magnetic resonance image. Fusion extended from occiput to C2 in 71% patients, and upper cervical decompression was needed in 92% patients. Postoperatively, all patients were immobilized in a halo vest for mean duration of 12 weeks. Fusion was achieved in all patients. Complications included halo pin-tract infections (7), junctional instability (2), and extension of fusion (4). CONCLUSION: This new cable technique is a good alternative for OCF in patients with SD who have altered anatomy at the craniocervical junction not amenable to rigid internal fixation. LEVEL OF EVIDENCE: 4.

Storiform collagenoma: case report / Colagenoma estoriforme: relato de caso

Storiform collagenoma is a rare tumor, which originates from the proliferation of fibroblasts that show increased production of type-I collagen. It is usually found in the face, neck and extremities, but it can also appear in the trunk, scalp and, less frequently, in the oral mucosa and the nail bed. It affects both sexes, with a slight female predominance. It may be solitary or multiple, the latter being an important marker for Cowden syndrome. It presents as a painless, solid nodular tumor that is slow-growing. It must be considered in the differential diagnosis of other well-circumscribed skin lesions, such as dermatofibroma, pleomorphic fibroma, sclerotic lipoma, fibrolipoma, giant cell collagenoma, benign fibrous histiocytoma, intradermal Spitz nevus and giant cell angiohistiocytoma.

O colagenoma estoriforme é um tumor raro originado a partir da proliferação de fibroblastos com produção aumentada de colágeno tipo I. É encontrado mais frequentemente na face, pescoço e extremidades, podendo aparecer no tronco, couro cabeludo e, raramente, na mucosa oral e leito subungueal. Afeta ambos os gêneros, com discreta predominância em mulheres. Pode ser solitário ou múltiplo, sendo que, neste caso, é um importante indicador da presença de síndrome de Cowden. Apresenta-se como tumor sólido, nodular, de crescimento lento e indolor. Deve constar como diagnóstico diferencial de tumores cutâneos bem delimitados, como dermatofibroma, fibroma pleomórfico, lipoma esclerótico, fibrolipoma, colagenoma de células gigantes, histiocitoma fibroso benigno, nevo de Spitz intradérmico e angioistiocitoma de células gigantes.