Nubbins Research Articles

Synchronous Bilateral Male Breast Cancer: A Case Report

Synchronous bilateral breast cancer is extremely rare in men and has not, up to date, been reported in Korea. A 54-year-old man presented with a palpable mass in the right breast. The right nipple was retracted and bilateral axillary accessory breasts and nipples were present. On physical examination, a 2 cm-sized mass was palpated directly under the right nipple, and, with squeezing, bloody discharge developed in a single duct of the left nipple. There was no palpable mass in the left breast, and axillary lymph nodes were not palpable. Physical examination of external genitalia revealed a unilateral undescended testis on the left side. Synchronous bilateral breast cancer was diagnosed using mammography, ultrasonography, and core-needle biopsy. Histopathological examination revealed invasive ductal carcinoma in the right breast and ductal carcinoma in situ in the left breast. Bilateral total mastectomy, sentinel lymph node biopsy, and excision of accessory breasts in the axilla were performed.

Wandering hemi-spleen: Laparoscopic management of wandering spleen in a case of polysplenia

INTRODUCTIONSeveral congenital anomalies of the spleen have been reported. The polysplenia is a rare anomaly in which the normal spleen is replaced with two or more smaller spleens. The wandering spleen is another anomaly resulting from the laxity of the splenic ligaments. The concomitance of both anomalies is very rare. PRESENTATION OF A CASEA 22-year old female patient presented with intermittent left hypochondrial pain for more than a year. After a thorough examination of the patient, she only had bilateral accessory nipples. Routine laboratory investigations were all normal. An abdominal ultrasound U/S scan was unremarkable except for a ptotic spleen. with a large splenule 5cm×3cm located near the fundus of the stomach. These findings were confirmed by a CT scan. A decision for a surgical intervention was then made, and the laparoscopic approach was chosen which revealed the condition. Laparoscopic removal of the wandering part was executed. The patient discharged on the first post-operative day. DISCUSSIONThe decision making in cases of wandering spleen is not always the same. The association of a wandering spleen with polysplenia is an asset to the surgical decision, along with the age of the patient. CONCLUSIONThe laparoscopic approach is an important tool in the diagnosis and management of wandering spleen. The diagnosis of polysplenic anomaly could provide a guidance for the surgical strategy in patients with wandering spleen.

Nipple Adenoma Arising in a Supernumerary Mammary Gland: A Case Report

Nipple adenoma, a benign tumour of the breast, is a relatively rare occurrence. This report describes an even rarer case of nipple adenoma arising within a supernumerary mammary gland. The presenting symptoms were a lump and throbbing pain in the axilla. Ultrasound scan and core biopsy proved inconclusive so surgical excision was undertaken, thus allowing a histological diagnosis. The patient made a full and uneventful recovery. Physicians must be aware that diseases of the breast and nipple-areola complex may also arise in accessory mammary tissue and accessory nipples should not be discounted as a common congenital anomaly. Instead they must be regarded, examined and treated as normal breast tissue.

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

The goal of this study is to define the effects of TCF4 hemizygosity in the context of a larger segmental deletion of chromosome 18q. Our cohort included 37 individuals with deletions of 18q. Twenty-seven had deletions including TCF4 (TCF4 (+/-)); nine had deletions that did not include TCF4 (TCF4 (+/+)); and one individual had a microdeletion that included only the TCF4 gene. We compared phenotypic data from the participants' medical records, survey responses, and in-person evaluations. Features unique to the TCF4 (+/-) individuals included abnormal corpus callosum, short neck, small penis, accessory and wide-spaced nipples, broad or clubbed fingers, and sacral dimple. The developmental data revealed that TCF4 (+/+) individuals were only moderately developmentally delayed while TCF4 (+/-) individuals failed to reach developmental milestones beyond those typically acquired by 12months of age. TCF4 hemizygosity also conferred an increased risk of early death principally due to aspiration-related complications. Hemizygosity for TCF4 confers a significant impact primarily with regard to cognitive and motor development, resulting in a very different prognosis for individuals hemizygous for TCF4 when compared to individuals hemizygous for other regions of distal 18q.

Atavisms: Medical, Genetic, and Evolutionary Implications

Traits expected to be lost in the evolutionary history of a species occasionally reappear apparently out of the blue. Such traits as extra nipples or tails in humans, hind limbs in whales, teeth in birds, or wings in wingless stick insects remind us that certain genetic information is not completely lost, but can be reactivated. Atavisms seem to violate one of the central evolutionary principles, known as Dollo's law, that "an organism is unable to return, even partially, to a previous stage already realized in the ranks of its ancestors." Although it is still not clear what triggers and controls the reactivation of dormant traits, atavisms are a challenge to evolutionary biologists and geneticists. This article presents some of the more striking examples of atavisms, discusses some of the currently controversial issues like human quadrupedalism, and reviews the progress made in explaining some of the mechanisms that can lead to atavistic features.

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, myopia, and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands, short middle phalanges of the index and little fingers, clinodactyly of the little fingers, short and fused proximal 4th and 5th metacarpals of the right hand, a short 5th metacarpal of the left hand, a fused left lunate-triquetrum, fused capitate-hamates, a prominent mandibula, and partial sacral agenesis. A thin posterior corpus callosum was apparent by MRI. Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss, Inc.

Molecular cytogenetic and clinical characterization of a patient with a 5.6‐Mb deletion in 7p15 including HOXA cluster

Here, we describe the clinical features of a boy with a 5.6-Mb deletion at chromosome 7p15.1-p15.3. He has mild facial anomalies, hand-foot abnormalities, hypospadias, congenital heart defects, and supernumerary nipples. This deletion was detected by array comparative genomic hybridization and verified by fluorescence in situ hybridization using BACs selected from the USCS genome browser. This deletion was not found in subsequent FISH analysis of the parental chromosomes. The deleted region contains several genes, including contiguous developmental genes on the HOXA cluster, which play a role in regulating aspects of morphogenesis during normal embryonic development. The patient's limb and urogenital features were similar to those observed in hand-foot-genital syndrome, which is caused by haploinsufficiency of HOXA13, whereas the congenital heart defect may reflect the deletion of HOXA3. We hypothesized that many clinical features of the patient were due to combined haploinsufficiency of the HOXA cluster. Our study also demonstrates the clinical usefulness of a molecular cytogenetic tool that is capable of detecting imbalances in the genome.

Syringomatous adenoma occurring within a supernumerary nipple

Syringomatous adenoma occurring within a supernumerary nipple

Van der woude syndrome with an unusual intraoral finding

Orofacial manifestations of Van der Woude syndrome (VWS) include cleft lip or palate, lower lip pits, hypodontia, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia. Extraoral manifestations include limb anomalies, popliteal webs, accessory nipples, congenital heart defects, and Hirschsprung disease. We report an interesting case of VWS with characteristic orofacial features along with an unusual additional finding of fusion of primary mandibular left lateral incisor and canine in a 7-year-old boy.

The Simpson–Golabi–Behmel syndrome: A clinical case and a detective story

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition comprising "coarseness" of facial traits, supernumerary nipples, congenital heart defects, polydactyly and fingernail hypoplasia, and an increased risk of neonatal death and later neoplasia. Psychomotor development is usually normal. The syndrome is caused by mutation/deletion of the X-linked gene GPC3. We describe a new case of SGBS, that led to the discovery of an extended family segregating a GPC3 mutation and, ultimately, of an affected relative forgotten, but not lost, in an anatomical museum, where he was classified as a macrosomic newborn, who was born probably around 1940 and died neonatally of unknown cause. This baby boy becomes the oldest case of SGBS on record.

Supernumerary nipple: Should we be alert?

Supernumerary nipples (SN) are common minor congenital anomalies. SN pose no medical threat, however they can be associated with other medical conditions especially kidney and urinary tract malformations.We present here a female infant with SN with interesting associated malformations. In our patient, umbilical hernia, umbilical granuloma, spina bifida occulta and bilateral ovarian cyst accompanied the accessory nipple, instead of the expected renal or urinary system anomalies. Case Report

Hypoglossia-hypodactyly syndrome in a newborn

Hypoglossia-hypodactyly syndrome is characterised by small tongue associated with limb deficiency. It is an extremely rare condition with around 30 cases reported in world literature. We report a case of hypoglossia-hypodactyly syndrome that in addition to features already described also had supernumerary nipples, microcephaly and micropenis with cryptorchidism. Hypodactyly was symmetrical in all four limbs. These features have not been reported previously.

Epibulbar Lipodermoids, Preauricular Appendages and Polythelia in Four Generations: A New Hereditary Syndrome?

A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characterisctics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preauricular manifestations while visible epibulbar lipodermoids do not seem obligatory. The syndrome has a typical dominant pattern of heredity.

Case report: Ectopic nipple on the sole of the foot, an unexplained anomaly

Supernumerary nipples are common congenital anomalies, most often occurring along the embryonic milk lines. We present a patient with an ectopic nipple on the foot. We are unable to explain the aetiology of this anomaly; however, several theories have been proposed. They are also associated with disorders of the renal and cardiovascular systems as well as pathology that affect normal breast tissue.

Fetal valproate syndrome in a 2-month-old male infant

Fetal valproate syndrome (FVS) results from prenatal exposure to valproic acid. It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. We describe a 2-month-old male infant with the typical dysmorphic features characteristic of FVS. He had a persistent left superior vena cava draining into a dilated coronary sinus and mild pulmonary hypertension. There was a history of maternal intake of sodium valproate during pregnancy.

Hailey‐Hailey disease in Tunisia

Most of the published reports on Hailey-Hailey disease (HHD) come from European and Asian countries. We report here the clinical and genetic investigation of 20 patients affected with HHD in Tunisia. Affected individuals from three large teaching hospitals in Tunis were recruited for the study over a 25-year period. Nine patients were identified through the active files and examined together with their family members that were visited in their respective regions. We have clinically examined in total 65 individuals and then identified 11 new cases. Patients were included on the basis of evocative skin lesions, biopsy proven HHD and negative immunofluorescence. Investigations to rule out fungal, bacterial and viral infections were done according to clinical symptoms. Twenty patients (12 males and 8 females) from 8 families were included in the present study with more than 55% that were undiagnosed before this investigation. Four patients had mild disease, eight had moderate disease and another eight had severe disease, among whom seven were females. Parental consanguinity was found in 7 cases out of 20 cases (35%). The neck region was first affected in half (4/8) of the male patients. Groins were first affected in 42% (5/12) of the female patients. Depression complicated the course of the disease in two female patients with severe HHD. We report an original association of supernumerary nipples with HHD in two sisters from the north of Tunisia. In 10 patients, the disease has become less troublesome with aging. HHD is underestimated. Physicians must be aware of this disease in case of resistant intertriginous dermatosis especially with a positive family history as nine out of 20 patients were misdiagnosed.

Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia

In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies.

Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome

Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson-Golabi-Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition. While severe genital anomalies have been reported rarely in patients with Simpson-Golabi-Behmel syndrome, no individuals with such anomalies prior to this report had survived beyond the neonatal period.

Nodular mucinosis of the breast in a supernumerary nipple: case report and review of the literature

Nodular mucinosis is an extraordinary stromal lesion of the breast. The usual clinical presentation is that of an oozing, slow-growing, soft, non-tender, lobulated mass in the subareolar region. Histologically, it is a non-encapsulated myxoid/mucinous lesion with a sparse infiltrate of spindle cells within a collagenized stroma. The histogenesis of nodular mucinosis is undetermined but the pattern of staining of the spindle cells suggests it might be of myofibroblastic origin. We herein report for the first time in the English literature a case of nodular mucinosis occurring in a supernumerary nipple. We also discuss the main differential diagnoses and review the literature of previously published cases of this entity.

In vivo reflectance confocal microscopy of supernumerary nipple and differential diagnosis from melanocytic lesions

Supernumerary nipples (SN) represent a developmental abnormality present in 1-6% of the population at large. Although the clinical diagnosis is as a rule easy, this lesion can mimic lentigos and melanocytic nevi, with which it may share some dermatoscopic features. Reflectance confocal microscopy is a new imaging technique that allows in vivo visualization of normal and pathologic skin structures, and is especially useful in the diagnosis of pigmented skin lesions. The reflectance confocal microscopic features of SN are described here, and the potential usefulness of this technique in the differential diagnosis of this lesion from its main clinical mimics is briefly discussed.