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Alkaptonuria.

Tharini G, Ravindran V, Hema N, Prabhavathy D, Parveen B - Indian J Dermatol (2011)

Bottom Line: A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here.The patient had palmar pigmentation in addition to the usual features of alkaptonuria.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Madras Medical College, Chennai, India.

ABSTRACT
A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.

No MeSH data available.


Related in: MedlinePlus

Pigmentation along with pits involving the margins of the palms and tips of the fingers
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Figure 3: Pigmentation along with pits involving the margins of the palms and tips of the fingers

Mentions: On examination, black pigmentation was seen on the sclera bilaterally, midway between the cornea and the inner canthus and also between the cornea and the outer canthus [Figure 1]. Discoloration of the pinna was present [Figure 2]. There was scaling and black pigmentation over both palms, along with pits in the tips of the fingers and relative sparing of the center [Figure 3]. The oral mucosa was normal. The patient was short statured and had kyphoscoliosis. Examination of the spine revealed restriction of movements in all directions. All movements were restricted in both hips and the left knee. Chest expansion was within normal limits. Systemic examination was normal.


Alkaptonuria.

Tharini G, Ravindran V, Hema N, Prabhavathy D, Parveen B - Indian J Dermatol (2011)

Pigmentation along with pits involving the margins of the palms and tips of the fingers
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108520&req=5

Figure 3: Pigmentation along with pits involving the margins of the palms and tips of the fingers
Mentions: On examination, black pigmentation was seen on the sclera bilaterally, midway between the cornea and the inner canthus and also between the cornea and the outer canthus [Figure 1]. Discoloration of the pinna was present [Figure 2]. There was scaling and black pigmentation over both palms, along with pits in the tips of the fingers and relative sparing of the center [Figure 3]. The oral mucosa was normal. The patient was short statured and had kyphoscoliosis. Examination of the spine revealed restriction of movements in all directions. All movements were restricted in both hips and the left knee. Chest expansion was within normal limits. Systemic examination was normal.

Bottom Line: A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here.The patient had palmar pigmentation in addition to the usual features of alkaptonuria.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Madras Medical College, Chennai, India.

ABSTRACT
A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.

No MeSH data available.


Related in: MedlinePlus