A 25-year old male had pigmented macules over the palm, sole and oral mucosa. He also had anemia and pain in abdomen. The most probable diagnosis is:
Correct Answer: Peutz-Jegher's syndrome
Description: Ans. is 'c' i.e., Peutz Jegher's syndrome It is most probably a case of Peutz Jegher's syndromePeutz Jegher's syndromeIt is an autosomal dominant* conditionCharacterized by -Presence of melanotic mucosal and cutaneous pigmentation around the lips, oral mucosa, face genitalia and palmar surfaces of the hand.Presence of hamartomatous polyps* scattered throughout the entire gastrointestinal tract.Patients with this syndrome are at increased risk of intussusception which can explain the presence of abdominal pain.Always keep in mind this important aspect of Peutz Jeghers syndrome.While these hamartomatous polyps themselves do not have malignant potential, patients with the syndrome have an increased risk of developing carcinoma of the Pancreas Breast OvaryLung UterusAbout other optionsCushing's diseaseSkin manifestations of Cushing's disease are - Skin thinning Striae distensaeThe dermal thinning may lead to rupture of elastic fibresStriae distensae are commonly seen on the anterior axillary folds.Acne - Seen on chest back and faceSkin infections are more common.The entirely different skin manifestations easily eliminates Cushing's disease, moreover these skin manifestations would be accompanied by endocrine manifestations.Albright's syndromeIt consists of brown cutaneous pigmentation* in girls along with polyostotic fibrous dysplasia* and precocious puberty*Incontinentia pigmentiRare x linked dominant* disorderSeen only in females*Three stages of evolution of skin disease Vesicular Initial stage, usually occurs in uteroWarty papule - Seen after healing of vesicular stagePigmentation - Typical whorls of brown to slate grey pigmentation replace the verrucous papules.Abnormalities associated with Incontinentia pigmentiMental retardation, seizures, microcephaly skeletal abnormalities Delayed and abnormal dentition Ocular defects in a third of patients
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