Hallermann Steriff Syndrome With Cutaneous Manifestations : A Case Review

The patient presents with hair loss that began 5 months ago. The problem is mild to moderate and has worsened. The initial location of hair loss was the diffuse scalp and temporal region that occurred gradually. Symptoms are associated with very low carbohydrate dieting and new medication within 3 - 6 months (Aleve). Symptoms are not associated with hair pulling, increased psychological stress, fever, recent illness, recent surgery or scalp rash. Relevant history positive for family history of hair thinning on both sides. Relevant history negative for anemia, hyperthyroidism, hypothyroidism,

For the pass this assignment will describe the investigations that are carried out to enable the diagnosis of these physiological disorders. For the merit this assignment will assess possible difficulties involved in the diagnosis from their signs and symptoms.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Individuals with this disorder further acquire congenital heart defects. It specifically blocks off the natural blood flow from the lungs and right chamber of the heart and/or causes an anomalous gap in the barrier that divides the heart chambers in two. Another symptom of this disorder are the problems involved in the digestive system. People who have this syndrome are

The general health of the patient is currently being compromised due to present illness mentioned above, but is stable. L.H. reports his usual health to be, “normal and not too crazy like this”. Patient has some fatigue noted while conducting daily activities; No recent weight change, fever or sweat. The skin noted to some discoloration on upper right side of back. There is no pruritus, rash or lesions present. Bruises noted bilateral on arms. Patient reported taking baby aspirin as daily medication. His hair is greying and thinning with no hair loss.

ectodermal dysplasia, which is a disorder that stops him from perspiring, sparse hair growth and

Background: A 36year old Caucasian male who is a construction worker presented to his physician's office complaining of several moles on his scalp and face that were “changing.” The client noticed a color change on the moles and states "they've increased in size". The borders on the facial moles are irregular. In addition; he states "the mole on his scalp is the worst". One half does not look equal to the other half. The client states "the moles are very bothersome and they itch a lot".

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

CHARGE syndrome is a rare genetic disorder that manifests itself in 1 in 10,000 newborns. The syndrome is characterized by complex yet identifiable clinical features including Coloboma- which involves a cleft in one of the structures of the eye, heart defects, choanal atresia- a narrowing or blockage of the nasal cavity, retardation of growth and development, genitourinary malformation and various ear abnormalities (Kim et al., 2014). Although these malformations are associated with CHARGE syndrome, the specific pattern and severity of symptoms varies among diagnosed individuals (Hsu et al., 2014).

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

I assessed 71 years old female, Ms. Smith (fake name), who appeared in good physical health. She was alert and oriented because she was able to tell me the correct date and place. She did not seem to be in any distress. Eyes were symmetrical, sclera was white, and pupils were equal, round, reactive to light, and accommodating, and extraocular movements were intact. No hearing deficit was noted because Ms. Smith was able to repeat the words that I whispered into her each ear. I did not note any breathing difficulties as she was able to breathe through both nares equally, lungs were clear bilaterally upon auscultation, and she denied shortness of breath. No swelling or tenderness was noted on palpitation of lymph nodes. Ms. Smith denied heart pain or palpitation, and heart beats were regular upon auscultation. Extremities were symmetrical bilaterally, and muscle strength was strong upon assessment.

abnormal condition of fibrous tissue in an organ. This disease affects the lungs and the ability to

Per (2004-2006) records and a consultative examination (CE), the claimant reported a history of retinopathy of prematurity that caused right eye blindness since birth and a cataract in the right eye, as well as a visual field restriction (less than 20 degrees), myopia, and poor visual acuity in the left eye that required corrective eyeglasses. She also had a history of asthma and migraine headaches.

ABSTRACT: Stickler syndrome is a genetic disease with autosomal dominance having hereditary Arthro-ophthalmopathy related to incorrect collagen structure. This syndrome is characterized by ocular, orofacial, auditory, and musculoskeletal abnormalities. This connective tissue disorder distributed throughout the body and multiple organ system. This paper discusses the case of a Caucasian family with stickler syndrome and emphasizing the benefits of early detection of syndrome and prevention of devastating manifestation of disease by appropriate prophylactic steps.

The patient appeared to be alert, very engaging during the counseling session, and No evidence of SI/HI. The patient does his treatment plan goals in every counseling session and his coping mechanism.