Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK.

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear-nose-throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO2 laser to the lesion with good clinical outcome. This case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.

Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl.

Importance: Current models of Goltz syndrome cannot estimate the overall neocollagenesis and marked shift in collagen types after ablative fractional laser resurfacing (AFR) within treated areas of focal dermal hypoplasia (FDH). Objectives: To clinically improve FDH by using AFR to characterize the specific ratio of collagen types associated with observed clinical changes. Design, Setting, and Participants: This case report of a girl with Goltz syndrome used extensive laboratory evaluation and multiple observers blinded to the patient's clinical status. Serial samples of clinically unaffected skin constituted internal control specimens, with clinical and histologic evaluations performed as part of a multicenter investigation. The analysis tested the hypothesis that thermal microtrauma caused by AFR created a unique environment that activated latent genes, inducing neocollagenesis and allowing the patient to adaptively produce the collagen subtype that was specifically deficient at baseline. Interventions: Two AFR treatments were administered within an area of FDH. Histologic comparison of the pretreatment and posttreatment skin was performed using serial internal controls. Main Outcomes and Measures: Histologic changes, including Herovici collagen staining to differentiate between types I and III collagen, within a treated area of mosaically affected FDH compared with clinically unaffected skin. Results: This female patient presented in the second decade of life with self-described red, itchy skin within a large plaque of FDH on her left posterior thigh and calf. After AFR, skin tightening and symptomatic relief were reported. Histologic findings demonstrated objective thickening of the dermal collagen. A marked shift in collagen predominance from type III (fetal/early wound) to type I (adult/mature) was observed. Conclusions and Relevance: Although further study is needed, this report shows promising results and raises important questions about gene expression and the epigenetics of Goltz syndrome-associated mutations and the local effects of AFR. Coupled with more rigorous investigation, this novel technique may help reveal molecular workarounds permitting innovative therapies that take advantage of the subtly different collagens that exist within the skin.

[Giant papillomas of the tongue and pharynx in focal dermal hypoplasia: a case report]. / Riesenpapillome der Zunge und des Rachens bei fokal dermaler Hypoplasie: Ein Fallbericht.

Focal dermal hypoplasia is a rare congenital syndrome with dominant X-linked mode of inheritance characterized by a wide range of meso-ectodermal anomalies. The clinical variation is great, as explained by the Lyon hypothesis and mosaicism. Findings include skin atrophy along the lines of Blaschko and papillomas. Our case is striking with rapidly-growing giant pharyngeal papillomas which caused dysphagia and required resection.

Hipoplasia do músculo grande dorsal: relato de caso / Latissimus dorsi muscle hypoplasy: case report

Introdução: O músculo grande dorsal é largo, um retalho muscular muito versátil e bem vascularizado. Devido a sua confiabilidade, é frequentemente usado para reconstrução de mama após mastectomia. Ele pode também ser usado na reconstrução de cabeça, pescoço e tórax, pediculado ou como retalho livre. Relato do caso: Os autores relatam o caso de uma paciente no pós-operatório de 8 anos de uma mastectomia esquerda e reconstrução imediata com implante mamário de silicone, que após radioterapia evoluiu com radio dermite e extrusão do implante. Foi programada, então, reconstrução com o músculo grande dorsal e, durante a cirurgia, foi identificado um músculo hipoplásico, que inviabilizou a sua utilização para o procedimento proposto.

Introduction: The latissimus dorsi muscle is a wide and well vascularized flap with great versatility. Its reliance brings a very good option of reconstruction following mastectomy. It also can be used for head, neck and chest reconstruction both a pedicled or as a free flap. Case report: The authors present a case of a patient who was submitted to a left mastectomy 8 years ago and had immediate reconstruction with silicone implant that extruded due to radiotherapy. The initial surgery proposal was to perform a regular latissimus dorsi flap to rebuild the breast but during the procedure it was found a hypoplasic muscle that resulted in an impracticable proper reconstruction.

Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome.

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder with a predisposition to cancer. Features like basal cell carcinoma, odontogenic keratocysts, calcification of falx cerebri, bifid ribs, pits on palms and soles and hypertelorism are evident. A case of this rare disease seen on a 13 year old female patient is presented here, where multiple odontogenic keratocysts were causing disfigurement of the lower jaw as well as displacement and malocclusion of the lower teeth.

A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy.

Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and mesodermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.

[Role of coral blocks in cheek augmentation surgery. Prospective study of 23 patients]. / Intérêt des blocs de corail dans les plasties d'augmentation des pommettes. Etude prospective portant sur 23 patients.

A two-year multicentre prospective study was performed from 1992 to 1995 in order to evaluate the real value of various kinds of coral blocks as bone substitute in maxillofacial surgery. This study was supported by the French National Agency for Research Valorization (GBM/TEP procedure). Ten Maxillofacial Surgery Units were included. During this time, 28 coral blocks (23 patients) of two different shapes were used as malar implants for correction of congenital or acquired zygomatic hypoplasia. The mean follow-up was 1.8 year (min: 1.5; max: 2). The tolerance was perfect for 89% of cases. The radiologic opacity never decreased more than 30% and the volume augmentation was always stable at the end of the follow-up period. Three implants were removed because of septic complications. Rigid fixation between the implant and the zygomatic bone appears to be the most important factor of success. On the other hand, the surgical approach (endo- or exo-buccal) does not seem to influence the success rate. The aesthetic improvement was always evaluated as satisfactory and stable by the patients and the surgeons. The authors discuss the real value of the various kinds of biomaterials and especially coral, comparing their personal data with those of the literature. Coral blocks clearly constitute a safe and reliable bone substitute, but further investigations are required to determine its long-term behavior.

Focal dermal hypoplasia (Goltz syndrome) with vertebral solid aneurysmal bone cyst variant. A case report.

Focal dermal hypoplasia or Goltz syndrome is a rare clinical entity, usually presenting in early childhood as a mix of ectodermal and mesodermal anomalies. Previously reported cases have included skeletal lesions of the long bones, metacarpals, metatarsals and pelvis. We present a case with a vertebral lesion causing neurologic deficit. A discussion of the history of the syndrome is included as well as detailed histologic description.

Aplasia cutis congenita of the scalp: issues in its management.

Two cases of aplasia cutis congenita with associated bony defects are presented to highlight the dangers of delayed coverage of exposed dura. Management of one case was complicated by repeated local and systemic sepsis and the other by repeated, life-threatening hemorrhage. Early, definitive coverage of these defects using full thickness skin flaps avoids the risks of hemorrhage and should, if the recipient bed is clean, lessen the incidence of complicating sepsis.

Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature.

Localized agenesis of the scalp is a well-recognized phenomenon, with over 300 cases reported in the literature. These defects have previously been called congenital ulcer of the newborn, Streeters spots or aplasia cutis congenita (ACC). First described 160 years ago, ACC is recognized as a heterogenous group of disorders all having focal absence of scalp. Type III ACC, Adams-Oliver syndrome, consists of a scalp defect associated with a distal limb anomaly. Typically, the lesions appear as small ulcerations which may heal spontaneously. Larger lesions associated with underlying bony defects occur, and may cause death secondary to infection or hemorrhage from the sagittal sinus. We report a case of Adams-Oliver syndrome that required surgical excision and closure because of involvement of the sagittal sinus documented by multiple imaging modalities.