Occasional cases may be associated with Muir-Torre syndrome . [5] SGc accounts for approximately 0.7% of all skin cancers , and the incidence of SGc is highest in Caucasian, Asian, and Indian populations. [2] [6] Due to the rarity of this tumor and variability in clinical and histological presentation, SGc is often misdiagnosed as an inflammatory condition or a more common neoplasm . [6] SGc is commonly treated with wide local excision or Mohs micrographic surgery , and the relative survival rates at 5 and 10 years are 92.72 and 86.98%, respectively. [6] Contents 1 Epidemiology 2 Presentation 3 Pathophysiology 4 Diagnosis 4.1 Morphology 4.2 Immunohistochemistry 5 Staging 5.1 Sentinel lymph node biopsy 6 Treatment 6.1 Surgical resection 6.2 Radiation therapy 6.3 Chemotherapy 6.4 Adjuvant Radiation Therapy 7 Prognosis 8 See also 9 References 10 External links Epidemiology [ edit ] SGc accounts for approximately 0.7% of all skin cancers and 0.2 to 4.6% of all malignant cutaneous neoplasms. [2] Notable risk factors include age, gender, and race. [5] Over 98% of SGc occur in patients over the age of 40. [7] The mean age of diagnosis for periocular and extraocular SGc is around 67 years. ... In those with metastatic disease, survival decreases to approximately 50% at 5 years. [17] Recurrence rates are higher in periocular vs extraocular tumors (4-37% and 4-29%, respectively). [6] Other features associated with prognosis include tumor differentiation, androgen-receptor staining index, ALDH1 expression, Ki-67 positivity, and PD-1 expression. [2] Poorly or undifferentiated tumors are more likely to have nodal involvement and are associated with higher mortality. [6] [2] Over time there has been a notable improvement in prognosis in those with SGc, which may be due to earlier recognition and improved treatment modalities. [6] [19] See also [ edit ] Sebaceous adenoma Sebaceous hyperplasia Sebaceoma List of cutaneous neoplasms associated with systemic syndromes References [ edit ] ^ Nelson, B. ... "Sebaceous lesions and their associated syndromes: part I" . Journal of the American Academy of Dermatology . 61 (4): 549–560, quiz 561–562. doi : 10.1016/j.jaad.2009.04.058 . ... "A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome" . Genetics in Medicine . 16 (9): 711–716. doi : 10.1038/gim.2014.19 . ... External links [ edit ] Classification D ICD - 10 : C44 ( ILDS C44.L46) External resources eMedicine : article/1101433 v t e Cancers of skin and associated structures Glands Sweat gland Eccrine Papillary eccrine adenoma Eccrine carcinoma Eccrine nevus Syringofibroadenoma Spiradenoma Apocrine Cylindroma Dermal cylindroma Syringocystadenoma papilliferum Papillary hidradenoma Hidrocystoma Apocrine gland carcinoma Apocrine nevus Eccrine / apocrine Syringoma Hidradenoma or Acrospiroma / Hidradenocarcinoma Ceruminous adenoma Sebaceous gland Nevus sebaceous Muir–Torre syndrome Sebaceous carcinoma Sebaceous adenoma Sebaceoma Sebaceous nevus syndrome Sebaceous hyperplasia Mantleoma Hair Pilomatricoma / Malignant pilomatricoma Trichoepithelioma Multiple familial trichoepithelioma Solitary trichoepithelioma Desmoplastic trichoepithelioma Generalized trichoepithelioma Trichodiscoma Trichoblastoma Fibrofolliculoma Trichilemmoma Trichilemmal carcinoma Proliferating trichilemmal cyst Giant solitary trichoepithelioma Trichoadenoma Trichofolliculoma Dilated pore Isthmicoma Fibrofolliculoma Perifollicular fibroma Birt–Hogg–Dubé syndrome Hamartoma Basaloid follicular hamartoma Folliculosebaceous cystic hamartoma Folliculosebaceous-apocrine hamartoma Nails Neoplasms of the nailbed
One of the oldest individuals reported to date had bicuspid aortic valve, aortic stenosis, and aortic insufficiency diagnosed in childhood; when last evaluated at age 38 years cardiac findings included left ventricular non-compaction and sick sinus syndrome requiring pacemaker implantation [Bostwick et al 2017]. ... A de novo CDK13 variant was detected in ~1.8% (7/398) of individuals in a cohort of individuals with syndromic congenital heart disease of unknown cause [Sifrim et al 2016]. ... Disorders with Developmental Delay / Intellectual Disability and other Anomalies to Consider in the Differential Diagnosis of CDK13 -Related Disorder View in own window Disorder Gene(s) MOI Clinical Features Overlapping Distinguishing KAT6B -related disorders KAT6B AD Congenital heart defects Agenesis of corpus callosum Dental anomalies (hypoplastic teeth &/or delayed eruption of teeth) Hypotonia In KAT6B -disorders: Syndrome-specific facial features Patellar hypoplasia/agenesis Flexion contractures at hips/knees Long thumbs / great toes Immobile mask-like face In CDK13 disorder: Sacral & vertebral abnormalities Pulmonary artery hypoplasia Pulmonary valve abnormalities Kabuki syndrome KDM6A KMT2D XL AD Congenital heart defects Dental anomalies, widely spaced teeth Sagittal cleft vertebrae Scoliosis In Kabuki syndrome: Syndrome-specific facial features Brachydactyly Ear pits Coarctation of the aorta In CDK13 disorder: Pulmonary artery hypoplasia Pulmonary valve abnormalities Mowat-Wilson syndrome ZEB2 AD Congenital heart defects incl pulmonary artery involvement Agenesis or hypogenesis of corpus callosum Constipation, anal stenosis In Mowat-Wilson syndrome: Syndrome-specific facial features Hirschsprung disease Axenfeld eye anomaly Uplifted earlobes Broad medial eyebrows In CDK13 disorder: Sacral & vertebral abnormalities AD = autosomal dominant; MOI = mode of inheritance; XL = X-linked Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CDK13 disorder, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to diagnosis) are recommended.
Exostosis of the heel, possibly of the same type, is a manifestation of the Reiter syndrome, a rheumatic disorder that shows a high order of association with a specific HLA type (142800), namely B27 (Brewerton et al., 1973; McClusky et al., 1984; Woodrow et al., 1974).
Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.
Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain).
Muller et al. (1993) described a brother and sister, the offspring of first-cousin Kurdish parents, with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome consisting of cerebral malformations, seizures, hypertrichosis, distinctive facies, claw hands, and overlapping fingers.
The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Epidemiology The syndrome has been described in four Japanese sibs (three brothers and one sister born to nonconsanguineous parents).
Nishimura et al. (1998) reported the cases of 4 Japanese sibs (3 brothers and a sister) with an apparently previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation.
Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life).
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus).
A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas.
A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. Etiology This syndrome is due to mutations in DMT1 which codes for a transporter mediating the uptake of iron from the intestinal lumen in cytosol of duodenal enterocytes.
A number sign (#) is used with this entry because of evidence that hypochromic microcytic anemia with iron overload-1 (AHMIO1) is caused by homozygous or compound heterozygous mutation in the SLC11A2 gene (600523) on chromosome 12q13. Another form of hypochromic microcytic anemia with iron overload (AHMIO2; 615234) is caused by mutation in the STEAP3 gene (609671) on chromosome 2q14. Clinical Features Shahidi et al. (1964) described hypochromic microcytic anemia in a brother and sister of French-Canadian extraction. An error in iron metabolism was characterized by high serum iron, massive hepatic iron deposition, and absence of stainable bone marrow iron stores. No defect in transferrin or in the qualitative aspects of heme synthesis could be shown.
A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations.
Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary (see this term) of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome (see this term).