Porphyria Cutanea Tarda: Disease Case Study

Name: Barbara
Date: 06-18-2021		Age: 25		Sex: F
SUBJECTIVE
CC: “My hands and shoulders’ skin became uncommonly dry, and blistering appeared without any possible reason.”
HPI: Barbara is a 25 years old white woman presenting today to the clinic with continuing complaints of severe hand dryness and blistering. She states that these conditions are uncommon for her and cause significant physical and moral discomfort. The patient also contends that the recent physical and emotional stress she had due to the pandemic affected her health.
Medications None specific, yet Barbara rakes birth control combination pills for the last 63 days.
PMH Allergies: The patient reports no environmental or drug allergies; only allergic to pineapples and kiwi fruits. Medication Intolerances: N/A Chronic Illnesses/Major traumas: No chronic illnesses or major traumas Hospitalizations/Surgeries: Broke the shoulder bone 5 years ago, treatment required hospitalization and surgery.
Family History The patient’s mother is 50 years old with no chronic disease conditions, and the father is 55 years old with chronic bronchitis developed due to a long history of smoking. The paternal side’s grandmother died a year ago due to the post-SARS-CoV-2 complication on the lungs. There is a dermal disease history in the patient’s maternal half of the family: grandmother had severe eczema.
Social History Barbara works as a reporter at a local TV channel. She frequently smoked in her 16-21 years old, yet quitted in the university. She has one male partner and has been sexually active for the past 4 months. The patient uses birth control pills and condoms for contraception.
ROS
General She looks exhausted and claims that the reason is lacking sleep and stress at work. Denies weight loss, yet noticed increased speed of body hair growth.			Cardiovascular Patient denies chest pain, palpitations, frequent pulse changes, unexpected increase or decrease of pressure.
Skin No history of severe skin condition; denies having blistering before the recent incident.			Respiratory Patient denies the issues with breathing, cough, or abnormal sensations in the lungs. She had a COVID-19 incident in May 2020 with no further complications.
Eyes Denies visual loss, double vision, or blurred vision. Barbara states she has no history of cataracts or glaucoma.			Gastrointestinal Patient denies abdominal pain, appetite, or stool changes. She had a vomiting episode three days ago and states that it happened due to premenstrual syndrome.
Ears Denies ear pain has no history of ear infections, the conditions are normal.			Genitourinary/Gynecological Patient’s genitourinary organs are in normal conditions, yet she mentioned the unstable frequency in urination while drinking roughly the same volume of liquids. LMP 1 weeks ago, no heavy bleeding, the cycle is stable, yet Barbara is on the birth control pills course.
Nose/Mouth/Throat Patient denies discomfort in their nose, congestion, or other issues, and no throat pain was noticed by her.			Musculoskeletal Denies difficulty of movements, swelling, knee or elbow pain.
Breast Patient denies and has never experienced tenderness, discharge, and other breast abnormalities.			Neurological Patient does not experience any coordination difficulties, seizures, or paralysis and syncope.
Heme/Lymph/Endo Foregone			Psychiatric Barbara claimed that she began losing concentration more frequently during the last month, feels more tired, has mood swings, and lacks sleeping.
OBJECTIVE
Weight: 143lbs BMI: 23.1	Temp: 36.0oC			BP: 120/70
Height: 5’6’’	Pulse: 74			Resp: 16
General Appearance Alert and cooperative young white woman, looking according to her age, with the severe blistering on her hands.
Skin Barbara has massive blistering on her wrists, hands, and shoulders. Other skin areas are within the normal conditions.
HEENT No abnormalities on the patient’s head, hair growth is within norms. No facial swelling or other muscle deviation was noted. Eyes: PERRLA; EOMI. Fundi benign. Ears: TMs intact with no erythema. Nose: Mucous membranes moist. Nasopharynx without erythema, exudates, or lesions. Oral mucosa pink, moist; no exudates or redness.
Cardiovascular S1& S2normal without MRG. (-) JVD. No carotid bruits.
Respiratory Lungs CTA posteriorly and anteriorly.
Gastrointestinal Abdomen soft and nontender. (+) bowel sounds.
Breast No nipple retraction, lymphadenopathy, or nipple discharge.
Genitourinary No abnormal tenderness was discovered during the patient’s palpation. No inguinal hernias or CVA tenderness. Vaginal mucosa pink, no discharge, minimal rugae within the norms. Bimanual exam reveals no masses. Rectovaginal exam is within the norm, no tenderness or masses revealed.
Musculoskeletal Range of motion is within normal limits, and without crepitus or pain.
Neurological Cranial nerves are II-XII intact, and Romberg exam is negative. Motor and sensory levels are without deviations according to the patient’s age.
Psychiatric Patient is alert, no disorientation noticed, she is able to respond on commands, and has normal affect.
Lab Tests Blood testing: increased ferritin levels. Urinalysis – dark yellow; WBC 12–17 cells/hpf; RBC 1–3 cells/hpf; pH 4.0; protein 10 mg/dL; glucose (–); leukocyte esterase (-); Porphobilinogen (+); nitrite positive; normal bacteria; Delta-aminolevulinic acid (+).
Special Tests: None

Diagnosis

Diagnosis

E80.1 – Porphyria cutanea tarda: Atmaca & Akbas (2019) describe the disease as “a condition that affects liver and skin by reduction and inhibition of hepatic uroporphyrinogen decarboxylase (UROD) enzyme activity” (p. 2). Blistering on the patient’s hands and shoulders combined with the urine lab tests results are the symptoms of Porphyria cutanea tarda.

Differential Diagnosis

L12.30 Acquired epidermolysis bullosa, unspecified: unreasonable skin fragility and blistering are the symptoms relevant to the disease. It is classified as an autoimmune with autoantibodies targeting type VII collagen.

Q80.3 Congenital bullous ichthyosiform erythroderma: blistering frequently occurs at birth and can re-occur in adulthood.

E80.1 – Porphyria cutanea tarda: Atmaca & Akbas (2019) mention that “clinical symptoms are usually related to abnormally elevated iron levels in the liver, yet the relationship between iron overload and the is not completely clear” (p.4). The disease is rare yet can be developed, and the patient’s history is relevant to the risk group.

Plan

• Further testing: blood testing, clarification of the heritage risk of developing the disease;
• Medication: Panhematin injection under medical surveillance and B vitamins course for 30 days (Handler et al., 2017).
• Education: Porphyria cutanea tarda affects the skin by making it dry and fragile, therefore blistering is the consequence of any minor trauma (Mayo Clinic, 2020). The patient must be instructed regarding hand care, avoiding rapid temperature changes, and preventing blistering from expanding. Besides, it is recommended to finish the course of the birth control pills and check if the symptoms decreased. Patient received handouts with recent information about the rare disease she was diagnosed with and was informed about the possibility of liver abnormalities as a cause of her conditions.
• Follow-up: scheduled after completing the birth control pills course. In the case of a worsening condition or blistering expanse, visit the emergency department.

References

Atmaca, H. U., & Akbas, F. (2019). Porphyria cutanea tarda: a case report. Journal of Medical Case Reports, 13(1), 1-4. Web.

Handler, N. S., Handler, M. Z., Stephany, M. P., Handler, G. A., & Schwartz, R. A. (2017). Porphyria cutanea tarda: an intriguing genetic disease and marker. International Journal of Dermatology, 56(6), e106-e117. Web.

Mayo Clinic (2020). Porphyria. Web.