Based on the given details of patient in the chronological order, make a structured and organized case history of pseudoxanthoma elasticum. It must be strictly be based on the dates of anamnesis and order. Tests and case histories were taken from different hospitals at different periods. NAME: Iliana Lyubomirova Tyufekchieva, 28 years old. ADDRESS: Sofia, Vrabnitsa-Obelya 1, block 120 ENROLLED: 17/01/12 DISMISSED: 24/01/12 LIB No. 1451 of 2012. DIAGNOSIS: PYODERMA. PSEUDOXANTHOMA ELASTICUM. HISTORY. The history was taken based on the patient's data. She first came to the clinic for treatment. The complaints date back to the summer of 1993, when a red rash appeared on her neck and nape, without subjective complaints. Later, the rash became yellow-whitish, and her skin "thickened". After some time, she noticed that her skin had relaxed and become more yellowish in the armpits, navel and inguinal folds. For several months, she has also had complaints about her eyes. She reports decreased vision, rapid fatigue, irritation and redness of the eyes. She came to the clinic due to the appearance of small, purulent pimples and redness in the area of her right thigh, with complaints of mild pain. PAST AND COMMON DISEASES. Hypothyroidism - on L-thyrox therapy; diabetes Type II diabetes on Metfogamma therapy FAMILY HISTORY: uncomplicated. ALLERGIES TO FOOD AND MEDICINES: not reported. GENERAL STATUS: no abnormalities. DERMATOLOGICAL STATUS: Pathological changes involve the skin of the neck, neck, navel, axillary and inguinal folds. On the neck, numerous oval, slightly raised papules and plaques with a yellow-whitish color are observed. In the navel area, the changes are the same. On the neck and in the axillary and inguinal folds, the skin is loose with lost elasticity and with a yellowish color. On the right thigh, single pustules on an erythematous base. Visible mucous membranes, skin appendages and peripheral lymph nodes without abnormalities. RESEARCH X6. 130 g./1.; cp. 4.97 g./L.; ht. 0.40, leuk. 6.38 g./L.; DKK headquarters 48.9%; co -1.04%; base 0.8%; mono. 5.7%, lymph. 43%; platelets 394 g./L., SUE 10 mm.; cr. sugar 5.4 mmol/l., total protein 71 8.1.; alb. 43 g./L., cholesterol 5.06 mmol/L.; HDL 2.09 mmol/L, LDL 2.62 mmol./L., creat 75 umol./1., peak. k-at 229 umol./1, CRP 2.1 mg./L.; cep. Fe 22.4 umol/l, UIBC 57.3 umol/l; Ca 2.3 mmol/l; phos 0.9 mmol/L.; alk phosph 195 UJA, ACAT 17 OL.; ALT 10 OL, GGTP 14 OL. Urine 2-3 leuk.; unit pl. ep cl.; mucus. MICROBIOLOGICAL EXAMINATION wound secretion lab. №560/21 01 12 years Poryzihabitans. CONSULTATIONS: Ophthalmologist anterior segment elastic. No Lisch nodes; iris with preserved structure. Fundus: presence of angioid striae in both eyes. Dr. Nikolov. AT DISCHARGE: Good general condition, tolerated the treatment well. Discharged with improvement. Advice given for continuing therapy at home. SLKK at the KDV decided: B. l. № 0221208 issued on 24.01.12 for 8 days of inpatient and 10 (ten) days of home sick leave under r./L08.0 of ICD-10 Due to a general illness. Total: 18 days until 03.02.12 inclusive. Control examination in the KV office of the Military Medical Academy within one month from the date of discharge MO INACH SUWANTZLEKAR: D IKODWA DR RALD MEP HAMMY Dr. Lyudinka Tsankova Date: 22.11.2022 Tel.: 0887598348 Final diagnosis: Background retinopathy and retinal vascular changes. Angioid striae of the chorioretinal retina due to Pseudoxanthoma elasticum. Myopic astigmatism of both eyes. Comorbidities: PHE, Insulin resistance History: The history was taken based on the patient's data. She has been diagnosed with pseudoxanthoma elasticum clinically and diagnostically for about 20 years. She complains of dull pain (more often in the evening after work) in both eyes. She wears an optical correction of DO: -1.0Dcyl/165 and LO: -1.25Dcyl/20. She is periodically examined at home with an Amsler grid and has found that she sees "displaced". In September 2021, after a blow to the head, she noticed that she saw more distortedly with the Amsler grid, which she uses periodically at home due to the risk of affecting the macula. She is periodically monitored by an ophthalmologist. Objective condition: VOD=0.9-1.0 with n.c. for 5 m VOS=0.9-1.0 with n.c. for 5 m TOD 16 mmHg TOS = 16 mmHg Preserved mobility in all directions. In the 1st position, angle O along the HB. ST: (-) negative. TO: Orbit, eyelids, conjunctiva b.o. POS calm. Transparent ocular media. Fundus: papilla - vital, with clear boundaries, presence of orange hyperpigmentation, multiple angioid striae; macula without reflex, single drusen; vessels with normal course and caliber. LO: Orbit, eyelids, conjunctiva b.o. POS calm. Transparent ocular media. Fundus: papilla vital, with clear boundaries, presence of orange hyperpigmentation, multiple angioid striae; macula without reflex, single drusen; vessels with normal course and caliber. Tests performed: Biomicroscopy, ophthalmoscopy, tonometry, visual acuity OCT data of single drusen in the parafoveolar area. Presence of orange hyperpigmentation and angioid striae from the papilla running peripherally. No involvement of the macular and peripapillary RNFL. FA - presence of hyperfluorescent angioid striae, like comet tails, typical of PHE. ARM so-called TO 0/-1.50/171 LO +0.25/-1.75/27 KP 30-2: Presence of diffusely reduced light sensitivity. Date : 30-09-2025 History: The history was taken based on the patient's data. It concerns a 40-year-old woman who is admitted to the clinic for the first time. She has been diagnosed with pseudoxanthoma elasticum for about 20 years. She complains of dull pain (more often in the evening after work) in both eyes. She wears an optical correction of DO: 1.0Dcyl/165 and LO: -1.25Dcy1/20. She periodically examines herself at home with an Amsler grid and has found that she sees "displaced". In September 2021. she hit her head badly, after which she noticed that she saw more distortedly with the Amsler grid. At that time, extensive ophthalmological examinations were performed. Now she is again complaining of image distortion. In addition to the skin lesions associated with the syndrome, the patient also has ocular changes typical of the disease: ruptures in the fundus of the eye, affecting the macula and leading to the presence of metamorphopsia and distortion of images. For several months, she has complained of the presence of a gray spot in front of the left eye. He is admitted for a thorough ophthalmological examination and monitoring of the condition. Objective condition: VOD = 0.7 with n.k. and no more corrections VOS = 0.7 with n.k. and no more corrections for III5m TOD 12 mmHg TOS 14mmHg Preserved mobility in all directions. In the 1st position, angle 0 along the HB. CT (-) negative. TO: Orbit, eyelids, conjunctiva 6.0. POS calm. Transparent ocular media. Fundus: vital papilla, with clear boundaries, presence of orange hyperpigmentation, angioid striae; macula with degenerative changes, single drusen; vessels with normal course and caliber. LO: Orbit, eyelids, conjunctiva b.o. POS calm. Transparent ocular media. Fundus: vital papilla, with clear boundaries, presence of orange hyperpigmentation, angioid striae, macula with degenerative changes, single drusen; vessels with normal course and caliber. Tests performed: visual acuity, autorefractometry, ophthalmoscopy, biomicroscopy CP(30-2)-DO data for superior arcuate scotoma associated with the blind spot, without dynamics compared to the previous examination; LO- no data for clinically significant decrease in photosensitivity OCT data for single drusen in the parafoveolar area. Presence of orange hyperpigmentation and angioid striae from the papilla running peripherally. No involvement of the macular and peripapillary RNFL. ARMT.3. UP +0.25/-1.75/172 LO +0.25/-1.75/21 OCT-A-no evidence of choroidal neovascular membranes in both eyes FAF data for ruptures of the bleb membrane visualized as hypoautofluorescent streaks surrounded by hyperanthofluorescent foci around the papillae in both eyes, LO-in the area of the macula a hypoautofluorescent streak, temporally from the macula a large streak with hypoautofluorescent character is visualized, parallel to the inferior temporal vascular arch Recommendations and prescribed medication after discharge: Remains under periodic control. Remains the same optical correction - DO: -1.0Dcyl/165 and on LO. -1.25Dey1/20. This epicrisis should be used when appearing before the TELC. Date: 30-09-2025 History: The history was taken based on the patient's data. She is a 40-year-old woman who is visiting the clinic for the first time. She has been diagnosed with pseudoxanthoma elasticum for about 20 years. She complains of dull pain (more often in the evening after work) in both eyes. She wears an optical correction of DO: 1.0Dсу1/165 and LO: 1.25Dсу1/20. She is periodically examined at home with an Amsler grid and has found that she sees "displaced". In September 2021, she hit her head badly, after which she noticed that she saw more distortedly with the Amsler grid. Extensive ophthalmological examinations were performed at that time. Now she is again complaining of image distortion. In addition to the skin lesions associated with the syndrome, the patient also has ocular changes typical of the disease: ruptures in the fundus, affecting the macula and leading to the presence of metamorphopsia and distortion of images. For several months, she has complained of the presence of a gray spot in front of her left eye. She is admitted for a thorough ophthalmological examination and monitoring of the condition. Objective condition: VOD = 0.7 s.k. and does not adjust further VOS = 0.7 s.k. and does not adjust further for 15m TOD 12 mmHg TOS 14mmHg Preserved mobility in all directions. In the 1st position, angle 0 along the HB. ST: (-) negative. TO: Orbit, eyelids, conjunctiva 6.0. POS calm. Transparent ocular media. Fundus papilla vital, with clear boundaries, presence of orange hyperpigmentation, angioid striae, macula with degenerative changes, single drusen, vessels with normal course and caliber. LO: Orbit, eyelids, conjunctiva 6.0. POS calm. Transparent ocular media. Fundus: vital papilla, with clear boundaries, presence of orange hyperpigmentation, angioid striae, macula with degenerative changes, single drusen, vessels with normal course and caliber. Tests performed: visual acuity, autorefractometry, ophthalmoscopy, biomicroscopy CP(30-2)-DO data for superior arcuate scotoma associated with the blind spot, without dynamics compared to the previous examination; LO- no data for clinically significant decrease in photosensitivity OCT data for single drusen in the parafoveolar area. Presence of orange hyperpigmentation and angioid striae from the papilla running peripherally. No involvement of the macular and peripapillary RNFL. ARMT.3. UP +0.25/-1.75/172 LO +0.25/-1.75/21 OCT-A- no evidence of choroidal neovascular membranes in both eyes FAF data for ruptures of the bleb membrane visualized as hypoautofluorescent streaks surrounded by hyperautofluorescent foci around the papillae in both eyes; LO- in the area of the macula. hypoautofluorescent streak; temporally from the macula a large streak with hypoautofluorescent character is visualized, parallel to the inferior temporal vascular arch Recommendations and prescribed medication after discharge: Remains under periodic control. The same optical correction remains - DO: -1.0Dcyl/165 and LO: -1.25Dey1/20. This epicrisis should be used when appearing before the TELC. Biochemistry Lab Results (11-10-2025) Glucose 5.2 mmol/L Creatinine 66.6 umol/L Ueic acid 260 umol/L Total cholesterol 5.35 mmol/L Triglycerides 0.57 mmol/L HDL cholesterol 2.06 mmol/L LDL cholesterol 2.85 mmol/L Insulin 5.9 uU/mL Vitamin D 26.8 ng/mL Date: 06-10-2025 Principal diagnosis 2527 920DD0D2 R73.0 we Mantou ICD Deviations from the norm of the tolerance test results in glucose Comorbidities and complications Other forms of obesity Vitamin D deficiency, unspecified Autoimmune thyroiditis ICD E66 ICD E55 ICD E06 3 ICD Anamnesis This is a 42-year-old patient, diagnosed with insulin resistance and impaired fasting glycemia, obesity diagnosed in 2018. On Harpr. no therapy in Metfogamma 1000mg. 3x1t. during meals.; With Hashimoto's Thyroiditis, diagnosed in 1990. From 2007 to 2013. is on replacement therapy. Currently euthyroid phase without therapy.; TAT and TPO - negative. Thyroid ultrasound without pathological changes; With vitamin D Date: 22.10.2025. three names: Iliyana Lyubomirova Tyufekchieva 42 years old tel: 0896622055 address: town of Kostinbrod Diagnosis: Pseudoxanthoma elasticum. Objective condition: He presents for an examination due to a long-standing illness, which was histologically verified years ago. The reason for the examination is a desire for treatment through modern laser therapy. Years ago, she had laser therapy, but it didn't work. The changes affected the skin of her armpits, torso, and thighs. Therapy: deficiency on therapy with Vigantol 2x15 drops weekly.; Past and accompanying diseases Pseudoxanthomelasticum.; Therapy Metfogamma 1000 mg. x 1t. evening.; code سمكم حسم سيده Objective condition Woman in good general condition.; Thyroid gland not enlarged, with soft-elastic consistency;
continuation Pulmo: CHVD, clear percussive tone Cor: RSD, clear tones, no added noises AN 120/70 fr. 80bpm; Abdomen: soft-elastic walls Chr.Dr. and Sl.: 6.o. Limbs: no edema, preserved peripheral pulsations of a. dorsalis pedis.; Height: 155cm.; Weight: 80kg.; Waist 85cm.; BMI = 33.3; C la Ό, p TLC 0.77 (0.35 - 4.94); born blood sugar 5.2 mmol/l; insulin 5.9; HOMA- 1.36; creatinine 66.6 umol/l.; creatinine clearance 112.9 ml/min/1.73m2; uric acid 260 (149369); total cholesterol 5.35 mmol/l; LDL-cholesterol 2.85 mmol/l.; dl-cholesterol 2.06 mmol/l.; triglycerides 0.57 mmol/l.; 25/04) BAT. P. 26 8 ig/mp Therapy I received a copy of the Outpatient Sheet. Vigantol 2x25 drops per week; Metfogamma 1000mg. 3x1t. during meals. Date:22/10/2025 Outpatient sheet Date: 22.10.2025. three names: Iliyana Lyubomirova Tyufekchieva 42 years old tel: 0896622055 address: town of Kostinbrod Diagnosis: Pseudoxanthoma elasticum. Objective condition: He presents for an examination due to a long-standing illness, which was histologically verified years ago. The reason for the examination is a desire for treatment through modern laser therapy. Years ago, she had laser therapy, but it didn't work. The changes affected the skin of her armpits, torso, and thighs. Date: 22-10-2025 Epicrisis DIAGNOSIS: L90.8 Other atrophic skin lesions (Pseudoxanthoma elasticum). Associated blindness: H35.0 Background retinopathy and retinal vascular changes. E03 Hypothyroidism CASE HISTORY: This is a 41-year-old female patient diagnosed with Pseudoxanthoma elasticum at the age of 10. Initially, only the skin was affected, but later she also reported vision loss, for which she is monitored by an ophthalmologist twice a year. She was treated with laser therapy for the skin changes, but without any particular effect. Over time, the patient reported an increase in skin changes. DERMATOLOGICAL STATUS: On the skin of the neck, body, axillae and thighs, yellowish papules are observed in places confluent into yellowish plaques of various sizes. The skin is soft and with pronounced elasticity, outside the norm. Skin appendages hair and nails b.o. Visible mucous membranes are pale pink; the PVL is not palpated and enlarged. THERAPY: Given the genetic nature of the disease, it is subject to follow-up by a dermatologist and ophthalmologist. Regarding skin changes, laser therapy of certain lesions was again suggested. 17-03-2026 Anamnesis Anamnesis This is a patient diagnosed in 1994 with pseudoxanthoma elasticum by histological examination. Initially, only the skin was affected, later she developed vision problems and is being followed up by an ophthalmologist. Treated with Er&Glass laser 1540 nm with unsatisfactory results Objective condition Yellowish papules are observed on the skin of the neck, trunk, axillae and thighs. The skin has a pronounced elasticity beyond the limits of the norm. The changes are of the type of pseudoxanthoma elasticum with skin and eye involvement, a genetic disease without options for therapeutic response to local and systemic medications. 24-03-2026 Anamnesis The medical history was taken based on the patient's data. She suffers from Pseudoxanthoma elasticum with complaints dating back to 10-12 years of age, initially the cervical fold was affected, and subsequently the rashes spread to the other folds - axillae, umbilical fold, inguinal folds, popliteal folds. The rashes are represented by grouped yellowish papules, and subsequently the skin in these places sagged. The disease occurs with involvement not only of the skin, but also of the eyes. Eye involvement has been established since school age, and she is monitored annually by an ophthalmologist, angiography of both eyes is performed, so far "stretch marks" have been established in the iris area, which stretch marks do not yet cross the pupil and are monitored. She protects herself from internal hemorrhages in the eyes by not lifting heavy objects. She is followed up by a cardiologist every 2-3 years, but no pathological abnormalities have been detected on echocardiography so far. She has had 2 pregnancies. The second pregnancy was carried to term at 27 weeks of gestation, which ended due to leakage of amniotic fluid. However, both pregnancies ended with a Caesarean section with the birth of live fetuses. At the moment, her children are 13 and 18 years old and have no signs of the disease. The disease was histologically verified in 2025 by skin biopsy. The histological picture corresponds to D. Pseudoxanthoma elasticum, a rare congenital skin disease with a defect in the connective tissue. fice Stu Objective condition Pathological skin changes involve the cervical, both axillary, both cubital, umbilical, both inguinal and popliteal folds. They are represented by a monomorphic rash of yellowish papules, densely grouped in plaques, located on a slightly erythematous-cathep skin base, with skin atrophy, especially pronounced in the axillary and inguinal folds. In the area of the navel, the plaque of yellowish papules is denser on palpation. Hair is thick, Nails are thick. Research The patient is referred to the Center for Competence, Medical University of Pleven, Dr. Kamburova for genetic consultation and genetic DNA analysis, via NGS sequencing (ABCC6) gene. Based on all this information can you make a data for case presentation for an international conference.
| Slide | Purpose |
|---|---|
| 1 | Title — ready for author/affiliation insertion |
| 2 | Background — epidemiology and pathophysiology of PXE (ABCC6/PPi axis) |
| 3 | Patient profile — concise demographic and comorbidity summary |
| 4 | Disease timeline — the core of this case; 32-year chronological narrative |
| 5 | Cutaneous manifestations — full distribution, histology, laser treatment failure |
| 6 | Ophthalmological manifestations — year-by-year progression with all investigation data |
| 7 | Systemic/cardiovascular — metabolic panel, BP, cardiac follow-up |
| 8 | Obstetric history — two pregnancies, PPROM at 27 weeks (PXE-relevant) |
| 9 | Genetic aspects — ABCC6, NGS referral, family screening |
| 10 | Multidisciplinary management table |
| 11 | Discussion — 7 key teaching points |
| 12 | Conclusions |
| 13 | References (6 key PXE papers) |
| 14 | Acknowledgements/consent/disclosure |
in short, what is FA, OCT and HVF and how is it relevant to pseudoxanthoma elasticum
| Test | What it detects in PXE | Clinical urgency |
|---|---|---|
| FA | Angioid striae pattern; early CNV | High — CNV = risk of acute vision loss |
| OCT / OCT-A | Drusen; macular thinning; CNV confirmation or exclusion | High — structural progression monitor |
| HVF | Functional vision loss; scotoma progression | Moderate — tracks real-world visual function |