Congenital Hemihypertrophy Research Articles

Mother’s Perceptions and Attitudes on Raising Children with Congenital Hemihypertrophy: Q-methodology

Mother’s Perceptions and Attitudes on Raising Children with Congenital Hemihypertrophy: Q-methodology

Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

Background: Congenital hemihypertrophy is a very rare condition that can be isolated or occurs in association with other congenital abnormalities and neoplasms, and well-recognized syndromes. Well-known syndromes that are associated with congenital hemihypertrophy include Klippel-Trenaunay-Weber syndrome, Beckwith Wiedemann syndrome, Goldenhar syndrome, Silver-Russell's syndrome. Partial hemihypertrophy affecting a limb is an extremely rare condition, and was probably first reported in 1949 by web, and very few cases have been reported in the literature. Patients and methods: Ten month old infant with partial hemihypertrophy, delayed development and facial dysmorphism who was observed at the pediatric neuropsychiatry clinic of Baghdad Medical City was studied. Results: The boy was hypotonic with developmental delay and has not been able sit yet. He had low set ears and facial dysmorphism consisting of hypertelorism and epicanthic folds. His right lower limb was obviously larger than the left. Parents were consanguineous, and family history was negative for similar condition. The rest of the examination was normal. Brain CT-scan, echocardiography, abdominal ultrasound, and chromosomal karyoype showed normal finding. Conclusion: Hemihypertrophy has not been reported in Iraq before. A novel syndromic association consisting of congenital partial hemihypertrophy, low set ears, hypertelorism, epicanthi folds, and developmental delay is reported in this paper.

Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study.

IntroductionIsolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. This article describes the protocol and preliminary results of a lateral body asymmetry (hemihypertrophy) screening procedure performed in healthy adolescents in a multicenter study. The reported incidence of hemihypertrophy varies between different publications and standardized protocols are needed to improve research in this area.MethodsOur screening program is taking place in Australia, Israel, Mexico, Ukraine and USA. Procedure includes two steps: (1) “three measurements – three questions” screening, or assessment of face, palms, and shins; (2) in-depth assessment of selected cases in order to exclude localized, lesional, and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of isolated hemihypertrophy. This step includes measurements of various anatomical regions and a detailed questionnaire.ResultsAt this stage, the screening procedure is completed and the selected participants are advised to refer to medical institutions for further clinical and genetic follow up to exclude possible tumors and other accompanying disorders.ConclusionWe present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.

Management of hemifacial hypertrophy with extended corpus angle V-line mandibular ostectomy

Asymmetry is one of the most unusual and fascinating errors of human reproduction. A subtle asymmetric variation of the contralateral structures of the face occurs commonly in the general population, even in the absence of any local lesion or systemic conditions. Hemihypertrophy, congenital hemihypertrophy, hemimacrosomia, or partial gigantism are the terms used when the association of these changes with time or modifying circumstances such as trauma is missing. Meckel in 1822 gave the initial description, and the first report was by Wagner in 1839. This case report presents the case of a 20-year-old female with hemifacial hypertrophy, treated with “extended corpus angle V-line mandibular ostectomy” with modifications in armamentarium. Corrective procedure performed was in comparison to the contralateral side. Anterior half ostectomy, followed by posterior half ostectomy, was carried out with an oscillating saw, contra-angle handpiece, and curved chisel, respectively. Radiological assessment of the inferior alveolar nerve helped in planning the ostectomy and preservation of the nerve. Single-stage extended mandibular corpus-angle ostectomy has helped in accomplishing an esthetic correction.

ISOLATED HEMIHYPERTROPHY IN CHILD

Hemihypertrophy or hemihyperplasia is a rare congenital condition, whose incidence is difficult to estimate, due to the fact that asymmetry is very mild, therefore remaining undiagnosed. Hemihyperplasia can be isolated or associated to certain genetic syndromes. We present the case of a 6-months-old female infant, in whom, during the neonatal period, was raised the suspicion of a congenital hemihypertrophy. She was admitted in our clinic due to the presence of a facial asymmetry. The clinical exam revealed also, besides the hemihyperplasia of the right hemiface more obvious at the level of the forehead, a hypertrophy of the right superior and inferior limbs. The laboratory tests identified a mild anemia, increased levels of transaminases and alfa-fetoprotein. The abdominal ultrasound revealed a mild hepatomegaly and the transfontanellar one discrete ventriculomegaly and frontal atrophy. The genetic test was negative, therefore the final diagnosis was of isolated hemihypertrophy. The further re-evaluations showed a decreasing level of alfa-fetoprotein, without other additional pathological elements. The particularity of the case consists in diagnosing an isolated hemohypertrophy in a 6-month-old female infant, with negative genetic test, in whom it was observed at the moment of birth a mild facial asymmetry, with afterwards favorable evolution, with progressive decrease of the alfa-fetoprotein level and normal abdominal ultrasound.

Pediatric Cutaneous Angiosarcomas

Cutaneous angiosarcomas are rare tumors, which predominantly arise in the sun-exposed skin of the head and neck of adult and elderly patients. Rarely, these tumors can be seen in children. We identified cutaneous angiosarcomas in 10 children and assessed clinical (patient age, tumor site, tumor size, and tumor focality) and histologic features including growth pattern (vasoformative vs. solid), mitotic rate (mitotic figures per 10 high power field), necrosis (present vs. absent), and cell shape (epithelioid vs. nonepithelioid). Tumors predominated in the lower extremities (6 of 10) of female patients (2 male and 8 female); age at diagnosis ranged from 1.5 months to 15 years. Four patients had preexisting conditions: congenital hemihypertrophy of the contralateral limb, the Aicardi syndrome, congenital lymphedema, and congenital hemangioma treated with radiation therapy. Tumors were located in the lower extremity (6), flank (1), elbow (1), and buccal mucosa (1), and ranged in size from 0.6 to 6.5 cm. Eight cases showed predominantly epithelioid morphology, 1 case showed mixed epithelioid and spindled morphology and 1 case was entirely spindled. Mitotic activity ranged from 1 to 55 mitotic figures per 10 high power field. Necrosis was seen in 5 cases. Clinical follow-up was obtained for 9 patients: 4 died of disease (range, 12 to 49 mo; mean, 25 mo) and 5 patients were alive without disease (18 mo to 28 y). Five patients had metastatic disease; sites of involvement included the lung, soft tissue, lymph node, pleura, liver, and bone. Cutaneous angiosarcomas in children are rare tumors, which are commonly associated with a preexisting condition, suggesting a greater role for genetics as opposed to environmental factors in the pathogenesis of these tumors.

Congenital isolated hemifacial hyperplasia

We report on a 14-year-old boy with congenital isolated hemifacial hyperplasia. Hemifacial hypertrophy most likely represents a minor form of congenital hemihypertrophy. MRI of the soft tissue is particularly suitable to support the diagnosis and reveal associated bony asymmetries.

HEMIHYPERTROPHY WITH UNILATERAL FOLLICULITIS AND ACNE

A case of congenital hemihypertrophy, right-sided folliculitis and acne in a 16-year-old boy is described. Except for hemihypertrophy and skin changes on the right side, no other abnormalities were found. A similar combination could not be found in the literature.

Proteus syndrome with syringohydromyelia and arachnoid cyst

The authors make a good review of the main clinical and genetic aspects of Proteus syndrome. They also describe new neuroimaging findings with clinical significance that must be added to the variety of abnormalities in these rare multi-organic neurocutaneous syndrome. With regard to molecular genetics, Zhou et al. [3] reported a boy with congenital hemihypertrophy, epidermoid nevi, macrocephaly, lipomas, arteriovenous malformations, and normal intellect. The patient had the clinical diagnosis of Proteuslike syndrome. Sequence analysis of DNA from peripheral blood revealed heterozygosity for a single base transversion resulting in an Arg 335 to Ter substitution of the phosphatase and tensin homolog (PTEN) gene product, whereas analysis of the DNA from nevus, lipoma, and arteriovenous mass also revealed heterozygosity for Arg 130 to Ter. The former mutation had been reported in patients with Cowden syndrome, whereas the latter mutation had been reported in individuals with Bannayan– Zonana syndrome. The authors postulated that the second hit, Arg 130 to Ter, occurred early in embryonic development and may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future. Five unrelated patients with Proteus syndrome had no demonstrable mutations in PTEN. Smith et al. [2] described a 16-month-old male with a de novo 1-bp deletion in the cDNA of the PTEN gene, 507 delC, and classic features of Proteus syndrome, including a left-sided epidermal nevus following the lines of Blaschko, widespread capillary venous malformation on his chest and abdomen, multiple lipoblastomata, disproportionate overgrowth of the right leg with progressive course. They concludedthatthe demonstration ofagermlinePTEN mutationin Proteus syndrome permitted its classification, along with Cowden and Bannayan–Zonana syndromes, as part of the spectrum of PTEN hamartoma–tumor syndromes (PHTS). Thiffault et al. [1] stated that the most plausible suggestion for the genetic basis of Proteus syndrome is the somatic mosaic hypothesis postulated by Happle in 1999, although no somatic mutations in candidate genes had been reported. Because germline mutations in the PTEN gene had been identified in patients with Proteus syndrome, screened affected and unaffected tissue from six patients with Proteus syndrome were done by direct sequencing of genomic DNA for germline or somatic mutations in PTEN or GPC3. No intra-axonic mutations were identified, indicating that neither PTEN nor GPC3 was likely to have a major role in the etiology of Proteus syndrome in this series of cases.

Fallbericht über das Ito-Syndrom mit angeborener Hemihypertrophie aus orthopädischer Sicht

We report on the orthopaedic treatment of a patient with the very rare Ito syndrome and congenital hemihypertrophy. The leading symptom is the lamellar depigmentation of the skin for which it is synonymously called incontinantia pigmenti acromians. Further anomalies are found in the central nervous system, as well as the ocular and the musculoskeletal systems. The treatment of the hemihypertrophy and the coexistent dysplasia of the hip with a combination of intertrochanteric shortening osteotomy and a triple osteotomy are specified and further methods are discussed.

The Combination of Bilateral Congenital Adrenal Hemorrhage and Congenital Hemihypertrophy

A3-day-old male infant was referred to our intensive care unit because of an abdominal mass. He was born at term by spontaneous vaginal delivery, with a birth weight of 3000 g. APGAR scores were 8 at 1 minute and 9 at 5 minutes. The physical examination revealed an active and well-looking infant. The remaining findings were unremarkable except for an abdominal flank mass noted on the left side and a mild hemihypertrophy on the left side (Figure 1). An ultrasound of the abdomen revealed bilateral, well-defined hypoechoic masses in the adrenal glands, consistent with hemorrhage. Abdominal magnetic resonance imaging (MRI) scan showed bilateral, well-defined hyperintense lesions located in the adrenal glands; the left one being bigger and compressing the left kidney inferiorly (Figure 2). A random urinary vanillylmandelic acid (VMA) level is 12.4 mcg/mg urinary creatinine (normal, 5–37 mcg/mg urinary creatinine) and random urinary homovanillic acid (HVA) is 18 mcg/mg urinary creatinine (normal, 11–35 mcg/mg urinary creatinine). Serial measurement of urinary levels of VMA and HVA were also within normal limits. The remainder tests including prothrombin time, partial thromboplastin time, factor levels, ACTH and cortisone levels were found to be in normal limits. A low-dose (1 mg) corticotropin (ACTH) test showed a significant cortisol response.

Presence of Vascular Anomalies with Congenital Hemihypertrophy and Wilms Tumor: An Evidence‐Based Evaluation

Congenital hemihypertrophy is an uncommon condition of unknown etiology characterized by unilateral overgrowth of part or all of one side of the body. Hemihypertrophy is known to be associated with certain childhood tumors, most notably Wilms tumor (or nephroblastoma), and for this reason infants with hemihypertrophy are often followed with serial abdominal ultrasounds. Klippel-Trénaunay syndrome (KTS) is the triad of port-wine stain, venous varicosities, and soft tissue and/or bony hypertrophy. Children with KTS typically have localized rather than generalized hemihypertrophy, but occasionally the hypertrophy is more extensive than the vascular anomaly itself. Information is lacking about whether hemihypertrophy in this setting can also be a risk factor for Wilms tumor. We systematically reviewed the medical literature to determine whether well-documented cases of Wilms tumor in the setting of both hemihypertrophy and vascular anomalies have been described, and if found, whether the association was sufficiently frequent that routine screening for Wilms tumor in this setting should be recommended. A review of case reports and case series in the pediatric population was undertaken using specific inclusion and exclusion criteria. We found 4 of 58 subjects with hemihypertrophy and Wilms tumor had a reported vascular anomaly, but in only one case was a clear-cut diagnosis of KTS confirmed. The relationship of the other three vascular anomalies reported was of uncertain significance. In conclusion, our review suggests that the risk of Wilms tumor in the setting of localized soft-tissue hypertrophy in conjunction with a vascular malformation is quite low. More extensive hemihypertrophy extending to body sites remote from the vascular malformation itself could have a higher risk of Wilms tumor, although the magnitude of this risk is uncertain. Our findings suggest that routine serial abdominal ultrasounds in patients with vascular malformations in association with localized soft-tissue hypertrophy are unwarranted.

Medullary sponge kidney and congeni-tal hemihypertrophy : A case report

Medullary sponge kidney and congeni-tal hemihypertrophy : A case report

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

Hyperglycaemia in a patient with congenital hemihypertrophy.

Hyperglycaemia in a patient with congenital hemihypertrophy.

A virilized patient with congenital hemihypertrophy

An 18 year old woman with congenital hemihypertrophy of her left side, presented with the rapid onset of virilism, hypertension and a cushingoid appearance. A computed tomographic examination revealed adrenal and hepatic masses. Adrenocortical carcinoma was confirmed by surgical pathology. Hemihypertrophy is linked to a variety of benign and malignant disorders that usually appear during childhood. These disorders include adrenocortical carcinoma and hepatoblastoma. We bring this case to clinical attention to increase awareness that adult patients with congenital hemihypertrophy are still at a significant risk of developing neoplasms.

Congenital Hemihypertrophy Associated With Other Abnormalities and/or Tumors : A Report of Two Cases

Congenital Hemihypertrophy Associated With Other Abnormalities and/or Tumors : A Report of Two Cases

Congenital hemihypertrophy with complained of difficult mastication: Report of a case and review of the literature

Congenital hemihypertrophy with complained of difficult mastication: Report of a case and review of the literature

Congenital hemihypertrophy with adrenal carcinoma and medullary sponge kidney

About 230 cases of congenital hemihypertrophy have been reported. A significant number of genitourinary abnormalities have been described in association with this disorder. Among these are Wilms tumors, adrenal malignancies, and medullary sponge kidney. We report on a patient with congenital hemihypertrophy, medullary sponge kidney, and an adrenal carcinoma. A brief review of the literature is given.

Congenital hemihypertrophy and associated abdominal lesions: W. T. Hennessy, W. J. Cromie, and J. W. Duckett. Urology 18:576–579, (December), 1981

Congenital hemihypertrophy and associated abdominal lesions: W. T. Hennessy, W. J. Cromie, and J. W. Duckett. Urology 18:576–579, (December), 1981