Medical Cases

History: A healthy 10-year-old boy had a 12 months history of an itchy right eye with frequent tearing. Small masses that gradually developed in the right caruncula lacrimal area and multifocal small nodules with papillomatous growth and vascular fronds.

What’s the diagnosis?

1. Chalazion
2. Papilloma
3. Pterygium
4. Pinguecula
5. Coloboma

Answer: Conjunctival papilloma is an acquired benign epithelial tumor of the conjunctiva and may manifest as a sessile or pedunculated conjunctival mass.

Cause: Human papillomavirus (HPV) 6 and HPV 11

Signs:

• This lesion is typically benign.
• It is seen commonly in older adults.
• Anatomically, the lesion commonly occurs at the limbus or the bulbar conjunctiva.
• These lesions may spread centrally toward the cornea or laterally toward the conjunctiva.
• Visual acuity may be affected if the lesion grows centrally.
• These lesions almost always are unilateral and single.
• They tend to have variable proliferation potential with a tendency to slowly enlarge in size.

Differential diagnosis: Ichthyosis, Sebaceous Gland Carcinoma, Conjunctival Squamous Cell Carcinoma

Treatment: Surgical excision, Erilesional cryotherapy, intralesional or topical interferon-α injection, carbon dioxide (CO2) laser, topical mitomycin-C (MMC), and oral cimetidine have been reported to be adjunctive treatments. Recurrences are not uncommon.

Reference: AAO, NEJM

Clinical Rounds by ClinicHours

The Fugates, a family who lived in the hills of Kentucky, commonly known as the “Blue Fugates” or the “Blue People of Kentucky”, are notable for having been carriers of a genetic trait that led to methemoglobinemia, which causes the appearance of blue-tinged skin.

Martin Fugate and Elizabeth Smith who had married and settled near Hazard, Kentucky, around 1820, were both carriers of the recessive methemoglobinemia (met-H) gene. As a result, four of their seven children exhibited blue skin, and continued progenation within the very limited local gene pool ensured that many descendants of the Fugates were born with met-H.

A hematologist Madison Cawein treated the family with methylene blue, which eased their symptoms and reduced the blue coloring of their skin.

Reason: The underlying mechanism involves some of the iron in hemoglobin is converted from the ferrous [Fe2+] to the ferric [Fe3+] form.

Signs and symptoms: (methemoglobin level above 10%) include shortness of breath, cyanosis, mental status changes (~50%), headache, fatigue, exercise intolerance, dizziness, and loss of consciousness. People with severe methemoglobinemia (methemoglobin level above 50%) may exhibit seizures, coma, and death (level above 70%).

Causes:

1. Genetic: Due to a deficiency of the enzyme diaphorase I (cytochrome b5 reductase), Hereditary met-Hb, HbM, or HbH.
2. Acquired: Drugs – trimethoprim, sulfonamides, and dapsone, local anesthetics especially articaine, benzocaine, prilocaine, lidocaine, and aniline dyes, metoclopramide, rasburicase, umbellulone, chlorates, bromates, and nitrites.

Differential diagnosis: Argyria, sulfhemoglobinemia, heart failure

Treatment: Supplemental oxygen and methylene blue given as a 1% solution (10 mg/ml) 1 to 2 mg/kg administered IV slowly over five minutes.

Note: The image shown above is of Mr. Paul Karason who consumed silver as a home remedy for severe dermatitis and later on developed argyria.

History: A 50-year-old woman presented with asymptomatic multiple cutaneous nodules all over the body of 4 months duration. Cutaneous examination showed multiple hyperpigmented nodules and plaques involving face, trunk, and extremities. Peripheral smear showed abnormally elevated leucocyte count (TLC-70,000) with abnormal cells: myeloblasts 40%, promyelocytes 8% and myelocytes 39%. Auer rods were present in few myeloblasts. What is the most likely diagnosis?

1. Gottron’s papules
2. Guttate psoriasis
3. Immune thrombocytopenia purpura (ITP)
4. Leukemia cutis
5. Solar purpura

Answer:

Leukemia cutis is the infiltration of neoplastic leukocytes or their precursors into the epidermis, the dermis, or the subcutis, resulting in clinically identifiable cutaneous lesions. Leukemia cutis may follow, precede or occur concomitantly with the diagnosis of systemic leukemia.

The clinical appearance of leukemia cutis is variable with erythematous to violaceous papules or nodules being the most frequent lesions (60%), followed by infiltrated plaques, generalised cutaneous eruption and erythroderma. They are frequently asymptomatic. The nodules are typically firm or rubbery in consistency, and can become purpuric if the patient is thrombocytopenic.

Source: PMC

Clinical Rounds by ClinicHours

History: A 30 yr old obese man presents with an asymptomatic rash on his back, arms, and hands that had developed 2 week earlier. On physical examination, scattered pink-yellow papules were present on the upper back, extensor surfaces of the upper arms, and dorsa of the hands. A fasting blood sample was grossly lipemic. Which of the following is the most likely diagnosis?

1. Eruptive xanthomas
2. Sebaceous hyperplasia
3. Granuloma annulare
4. Molluscum contagiosum

Answer: Eruptive xanthomas typically present as crops of 2–5 mm yellow papules with a red rim over extensor surfaces such as the buttocks or shoulders, but can be widespread including inside the mouth. The papules may be tender and are usually itchy. They may demonstrate köbnerisation. Eruptive xanthomas are due to hypertriglyceridaemia (triglyceride >11.2 mmol/L) of any cause.

Source: Dermanetz

History: A 50-year-old woman with painless swelling in her left foot. The swelling started after a banal penetrating injury on the sole of her left foot 23 years ago. X-rays images showed multiple osteolytic lesions of the tarsus.

a) Eumycetoma
b) Sporotrichosis
c) Chromoblastomycosis
d) Histoplasmosis
e) Lobomycosis

Answer:

Eumycetoma, also known as Madura foot.

Causes Madurella spp., Leptosphaeria senegalensis, Curvularia lunata, Pseudallescheria spp., Neotestudina rosatii, Acremonium spp. and Fusarium spp.

Symptoms: Swelling, weeping pus filled sinuses, deformity.

Diagnostic method Microscopy, biopsy, culture, medical imaging, ELISA, immunodiffusion, DNA sequencing

Differential diagnosis: Actinomycosis (Actinomycetoma)

Treatment Surgical debridement, antifungal medicines

Medication Itraconazole, posaconazole, voriconazole

Complications: Amputation

Prognosis Recurrence is common

Frequency Endemic in Africa, India and South America

Source: Wikipedia

History: A female infant delivered at term had a “blueberry muffin” rash at birth. Laboratory tests and imaging studies were normal. Skin biopsy showed a dense infiltrate of cells with kidney-shaped nuclei and positive S100+ and CD1a+ on immunohistochemistry. What is the most likely diagnosis?

Answer:

Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from the skin to lymph nodes.

Symptoms range from isolated bone lesions to multisystem disease. LCH is part of a group of syndromes called histiocytoses, which are characterized by an abnormal proliferation of histiocytes.

The disease has gone by several names, including Hand–Schüller–Christian disease, Abt-Letterer-Siwe disease, Hashimoto-Pritzker disease (a very rare self-limiting variant seen at birth) and histiocytosis X, until it was renamed in 1985 by the Histiocyte Society.

Diagnosis: Assessment of endocrine function and bone marrow biopsy is also performed when indicated. S-100 protein, CD1a, langerin (CD207).

Treatment: Radiation therapy or chemotherapy

Source: NEJM, Wikipedia

Clinical Rounds by ClinicHours

A 20-year-old male presented to an outpatient headache clinic with a 10-year history of headache, which had become daily over the past 3 months and awakened her in the middle of the night. Past history also revealed chronic musculoskeletal pain, syncope, fatigue, and hypermobility of joints.

Ehlers–Danlos syndromes (EDS) are a group of thirteen genetic connective-tissue disorders that are in the current classification, with a fourteenth type discovered in 2018.

Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood.

Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.

EDS occurs due to variations of more than 19 genes that are present at birth.[1] The specific gene affected determines the type of EDS. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen.

Diagnosis is often based on symptoms and confirmed with genetic testing or skin biopsy but people may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.

No cure is currently known and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. While some forms of EDS result in a normal life expectancy, those that affect blood vessels generally decrease it.

Source: Wikipedia

Clinical Rounds by ClinicHours

History: A 14 yr female presented to ED with 6 weeks h/o well-defined darkening and thickening of the hands, feet, ankles, neck, and the upper trunk region including upper chest and back. She had similar lesions but milder form on lips and periorbital region. The affected area of the skin was said to get exacerbated after exposure or re-exposure to sunlight. She also complaint of recurrent episodes of passage of loose watery stools. What’s the diagnosis?

Pellagra is a disease caused by a lack of vitamin niacin (vitamin B3).

Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth. Areas of the skin exposed to either sunlight or friction are typically affected first. Over time affected skin may become darker, stiffen, peel, or bleed.

There are two main types of pellagra, primary and secondary.

Primary pellagra is due to a diet that does not contain enough niacin and tryptophan.

Secondary pellagra is due to a poor ability to use niacin within the diet. This can occur as a result of alcoholism, long-term diarrhea, carcinoid syndrome, Hartnup disease, and a number of medications such as isoniazid. Diagnosis is typically based on symptoms and may be assisted by urine testing.

Treatment is with either niacin or nicotinamide supplementation. Improvements typically begin within a couple of days. General improvements in diet.

Image by PubMed

Clinical Rounds by ClinicHours

History: A 46-year-old woman presented with symptoms of urgency, frequency and urge-incontinence for 2 years with h/o of fever. Her urine was acidic with few pus cells, but sterile on culture. Other laboratory tests were normal. Ultrasonography suggested hydronephrotic right kidney with internal echoes. X-ray KUB show multiple lobulated calcifications in the right renal region conglomerated into the shape of the kidney.

Extensive parenchymal calcification in a non functioning kidney forming its cast is called a ‘putty kidney’ which is a characteristic of end-stage renal TB.

Symptoms: Persistent cystitis, unresponsive to antibiotics, ↑urinary frequency, dysuria, loin discomfort, malaise, fever, weight loss, ulcer.

Diagnosis: USG, Xray KUB, CECT scan

Treatment: ATT

Image by: BMJ

History: A 45-year-old farmer came to dermatology OPD with C/O nonitchy red lumpy areas, pustules, and crusting around the hairs that can be pulled out easily. What’s the diagnosis?

Tinea barbae is a superficial dermatophyte fungal infection that is limited to the bearded areas of the face and neck. The most common causes are Trichophyton mentagrophytes and T. verrucosum.

Signs and symptoms

• Pimple or blister
• Swelling and redness around infected area
• Red and lumpy skin
• Crusting around hairs in infected areas and effortless pulling of hair.

Diagnosis:

• Direct microscopic examination
• Culture on Sabouraud agar

Treatment: Antifungals

• Topical antifungals
• Itraconazole can be recommended as one-pulse therapy at a dosage of 400 mg/d divided into 2 doses for 1 week.

Image by DermNet NZ