Eponymous terms and rarities

This chapter provides a list of eponymous terms and rare diseases. These include acanthosis nigricans, which is pigmentation of the axillary skin associated with breast or gastric cancer; Baker’s cyst, which is almost always associated with knee joint pathology such as arthritis or torn meniscus; and Cloquet’s (Callisen’s) hernia, which is a deep femoral hernia that cannot protrude from the saphenous opening as it lies deep to the femoral vessels. The chapter then deals with DeQuervain’s disease, encephalocele, and familial adenomatous polyposis (FAP). It also describes gamekeeper’s thumb, hereditary osteodystrophy, inspissated bile syndrome, Jansen’s disease, Kaposi’s sarcoma, and livedo reticularis. Finally, the chapter defines McMurray’s test, which is used to identify medial meniscal tears; nutcracker oesophagus, which is an alternative name for diffuse oesophageal spasm; and osteogenesis imperfecta, which is an inherited collagen disorder, resulting in fragile bones that fracture easily, blue sclera, deafness, and soft teeth.

Minocycline-induced blue sclera and skin hyperpigmentation

A 73-year-old man presented to the emergency department with lethargy and influenza-like symptoms. Incidentally, prominent blue sclera and blue-grey skin discolouration to the periorbital skin, pinnae, neck, upper and lower limbs, hands, feet, fingernails and toenails were noted. His general practitioner (GP) had previously ceased amiodarone, believing it to be the causative agent. A literature search confirms the side effects were likely due to minocycline, which the patient had been taking for 10 years. Long-term minocycline use is associated with scleral and skin hyperpigmentation, with no apparent adverse effect on ocular structure or function. The pigmentation may reverse with cessation of minocycline, or it may be permanent. Amiodarone may also cause skin hyperpigmentation, but scleral pigmentation is not a known association. This case report explores the side effect profiles of these two drugs, and highlights the potential for confusion regarding causative agents when used concurrently.

A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation

Kabuki syndrome (KS) is a rare syndrome that involves defects in a wide range of organs, with each organ showing a different severity of symptoms. Two genes have been associated with patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D). The study reported the case of an 18-month-old Turkish boy diagnosed with KS. The patient showed a typical appearance: widely separated eyes, sparse eyebrows, long palpebral fissures, blue sclera, large prominent ears, and micrognathia. The patient was operated on because of bilateral hip dislocation and undescended testicles. He was also followed up by pediatric gastroenterology with asymptomatic liver enzyme elevation (AST- 79 U/L, ALT -68 U/L, ALP -52 U/L). The whole exome sequencing analysis revealed a novel pathogenic c.13285 C>T (p.Gln4429Ter) mutation in the KMT2D gene. The genotype-phenotype correlation of KS was not precisely established. As per our knowledge, there is limited literature which gives information about the hepato-biliary manifestations of KS. Here, we propose that the new mutation of the KMT2D gene may result in the typical facial features of KS with asymptomatic elevated liver enzymes.

A RARE CASE OF OSTEOGENESIS IMPERFECTA TYPE I

A 7 year old female patient was admitted to hospital having experienced bowing of upper and lower limbs, repeated fractures over the past 4 years. Clinical ndings and radiological investigations such as recurrent fractures and deformity of bones while bearing weight, blue sclera and low bone mineral density, all led us to conclude that this child has a mild form of osteogenesis imperfecta type I. The patient was immediately started on calcium (1000mg/day), vitamin D (800mg/day) and pamidronate (60mg) was given intravenously. Following the above protocol, we found that the quality of life of the patient showed signicant improvement. This patient is a rare case of OI type I.

Management of cesarean delivery in a parturient with osteogenesis imperfecta：A case report

Osteogenesis imperfecta (OI) is characterized by bone fragility, defects in the teeth, blue sclera, and deficits in hearing and vision [1,2]. Because of an anticipated difficult airway and back anatomy, there is a high risk of choosing either general or spinal anesthesia, especially in critically ill obstetric patients. It is still controversy about the anesthesia method in patients with OI. Ultrasound-guided transversus abdominis plane block (TAPB) has been used for analgesia after cesarean section, but rarely for anesthesia in this operation [3-5]. We describe a critically parturient with OI who underwent cesarean section under ultrasound guided TAPB with spontaneous breathing general anesthesia. The patient's vital signs have remained stable during the operation, and a live female infant was delivered successfully by cesarean section. The mother and daughter were safe at last. Written informed consent was provided by the patient for publication of this report with photos.created.

Computed and Subjective Blue Scleral Color Analysis as a Diagnostic Tool for Iron Deficiency: A Pilot Study

Iron deficiency (ID) is the most common nutritional deficiency. ID diagnosis requires ferritin measurement because clinical findings are poor and nonspecific. We studied the diagnostic value of blue sclera, which was scarcely reported as a specific and sensitive sign of ID. We enrolled 74 patients suspected of having ID. Pictures of their eyes were taken using a smartphone under similar daylight conditions. Three independent physicians graded the scleral color, and a computer analysis yielded the blue percentile of the sclera image. Final analysis included 67 patients (mean age 59.9 ± 20.1 years). Fifty-one had ID. Subjective blue scleral color was associated with ID for physician 1 (64.5% vs. 86.1%, p = 0.03). Sensitivity was 60.8% (CI95: 46.1%; 74.2%), specificity 68.8% (CI95: 41.3%; 89%), and positive predictive value 86.1% (CI95: 70.5%; 95.3%). A marginal difference was observed for other physicians (p = 0.05). Computer analysis showed higher blue in the ID group (p = 0.04). The area under the receiver operating characteristic (ROC) curve was 0.7 (0.54; 0.85). Sensitivity was 78.4% (CI95: 63.7%; 88.7%), specificity was 50% (CI95: 24.7%; 75.3%). Assessment of blue sclera was not influenced by iris color, sex, or anemia. We showed that blue sclera has good positive predictive value for ID diagnosis, and computer analysis was correlated to clinical assessment. Improvement of this innovative, non-invasive method could provide an easy handling and inexpensive diagnosis tool for ID.