Page 79 – Pulmonology Advisor

Pachyonychia Congenita

Are You Confident of the Diagnosis? What should be alert for in the history A family history should be elicited, as well as any history of recurrent trauma or hobby-related chronic use of the hands and feet. Painful callusing on the feet is almost pathognomonic in a patient with keratoderma and thickened nails. Morning/starting pain…

p63 Disorders (ankyloblepharon-ectodermal defects-clefting syndrome, ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, split hand/foot malformation, acro-dermato-ungual-lacrimal-tooth [ADULT] syndrome, limb-mammary syndrome, Rapp-Hodgkin syndrome, nonsyndromic orafacial clefting, Hay-Wells syndrome)

Are You Confident of the Diagnosis? p63 disorders are allelic and include ankyloblepharon-ectodermal defects-clefting (AEC) syndrome, ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, split hand/foot malformation, acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, limb-mammary syndrome, Rapp Hodgkin syndrome, and nonsyndromic orafacial clefting. AEC syndrome is also known as Hay-Wells syndrome. Rapp Hodgkin is now felt to represent a variable manifestation of…

Osteogenesis Imperfecta

Are You Confident of the Diagnosis? Osteogenesis imperfecta (OI), a heritable disorder of connective tissue, is characterized by brittle bones, blue sclera, dentinogenesis imperfecta, adult onset deafness and short stature. There is marked clinical and genetic heterogeneity which includes dominant or recessive inheritance and mild, severe or lethal phenotypes. To-date, eight phenotypes have been accepted…

Orf (ecthyma contagiosum, scabby mouth [in animals])

Are You Confident of the Diagnosis? What you should be alert for in the history Parapoxviruses (such as orf virus [goats and sheep], pseudocowpox virus [dairy cattle], sealpox virus [grey seals], and deer-associated parapoxviruses) all produce clinically indistinguishable vesiculopustular lesions in humans. Infections occur at the site of contact with the infected animal (or fomite…

Oral Hairy Leukoplakia (OHL, hairy leukoplakia, viral leukoplakia)

Are You Confident of the Diagnosis? What you should be alert for in the history Oral hairy leukoplakia (OHL) is usually asymptomatic, and the unexpected esthetic appearance often alerts an individual to its presence. Rarely, patients complain of mild burning or pain, especially with eating or drinking. Look for known immune suppression or risk factors…

Onycholysis

Are You Confident of the Diagnosis? What you should be alert for in the history Onycholysis refers to the physical sign of separation of the nail plate from the nail bed (Figure 1). Because of this separation, the portion of the nail plate that is not attached appears white. A greenish discoloration can sometimes be…

Onchocerciasis (River Blindness)

Are You Confident of the Diagnosis? What you should be alert for in the history A clinical suspicion of onchocerciasis or “river blindness” is relevant in travelers returning from endemic areas who have eye symptoms, severe pruritus, and/or a discrete itchy papular rash of the lower extremities. Long-term residents of endemic areas emigrating to nonendemic…

Oculocutaneous Albinism

Are You Confident of the Diagnosis? What you should be alert for in the history Oculocutaneous albinism is a disorder that has two components: ocular and cutaneous. The ocular abnormalities are essential to the diagnosis of albinism. All albino individuals have poor vision and most are legally blind, with visual acuity usually less than 20/100.…

Ochronosis – Alkaptonuria and Exogenous

Are You Confident of the Diagnosis? What you should be alert for in the history Alkaptonuria (AKU) is a rare autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase (HGAO). Ochronosis is almost a synonym, but technically describes dark pigment deposits on connective tissue, no matter…

Nummular dermatitis (nummular eczema)

Are You Confident of the Diagnosis? What you should be alert for in the history Characteristic findings on physical examination While ordinary eczema has an indistinct outline, nummular eczema presents with a sharply defined coin-shaped or oval border with a clearly defined margin (Figure 1). The lesions may resemble tinea corporis in appearance. The most…

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