Journal of Dr. NTR University of Health Sciences

CASE REPORT
Year
: 2019  |  Volume : 8  |  Issue : 3  |  Page : 229--231

A rare case report of familial koilonychia with azoospermia


Prabhat Agarwal, Nikhil Pursnani, Boentika Singh, Awantika Parihar 
 Deparment of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India

Correspondence Address:
Boentika Singh
Sarojini Naidu Medical College, Agra, Uttar Pradesh
India

Abstract

We report a case of a middle-aged male patient presenting with complaints of infertility. On examination and history-taking, familial koilonychia was reported without any association with ectodermal, systemic, or orthopedic defects. His iron profile was within normal limits. Hemoglobin was in normal limit. KOH smear taken from the nail showed no fungal growth. Family history of three generations revealed males suffering with familial koilonychias with infertility. Patients admitted with azoospermia should be asked about family history of koilonychia and pedigree analysis should be done.



How to cite this article:
Agarwal P, Pursnani N, Singh B, Parihar A. A rare case report of familial koilonychia with azoospermia.J NTR Univ Health Sci 2019;8:229-231


How to cite this URL:
Agarwal P, Pursnani N, Singh B, Parihar A. A rare case report of familial koilonychia with azoospermia. J NTR Univ Health Sci [serial online] 2019 [cited 2020 Sep 23 ];8:229-231
Available from: http://www.jdrntruhs.org/text.asp?2019/8/3/229/269496


Full Text



 Introduction



Familial koilonychia is a rare genetic disease which is an autosomal dominant disorder with high degree of penetrance. This disease is not associated with ectodermal, systemic, or orthopedic defects. It is important to differentiate it from iron deficiency anemia. Unlike familial koilonychia, azoospermia is a rather common disease with more than 1 million cases per year in India.

It occurs due to obstruction in the reproductive tract or due to inadequate sperm production (testicular azoospermia).

 Case Report



A 28-year-old male came with complaint of infertility to the outdoor of medicine department. We noticed his nails were spoon-shaped and were found in both hands and feet with all digits involved [Figure 1] and [Figure 2].{Figure 1}{Figure 2}

On further investigation and history-taking, he revealed that it was congenital and nonprogressive, and other family members also had similar nails[1] and males who are having koilonychia were also infertile due to azoospermia. No other history of diabetes and hypertension was obtained.

Hemogram and peripheral smear reports of blood were normal. Serum iron, ferritin, and total iron-binding capacity were within normal ranges, and therefore iron deficiency anemia was ruled out. KOH smear and culture showed no fugal infections. Workup for infertility including history, physical examination, and local examination of testes, laboratory tests, and semen analysis were done. Semen analysis revealed azoospermia in the patient.

History-taking and pedigree analysis showed that the mother was suffering from koilonychia. Out of four offsprings, three suffered from familial koilonychias (FK) [Figure 3].{Figure 3}

The patient had two brothers; the elder brother was azoospermic, while the other one was completely normal with no complaints of azoospemia or FK. Furthermore, the sister had three kids out of which two suffered from FK.

 Discussion



Koilonychia (spoon nails) is a nail disease that may be a sign of hypochromic anemia. Clinically, it presents as abnormally thin nails (usually of the hand) which have lost their convexity, becoming flat or even concave in shape.[2] In a sense, koilonychia is the opposite of nail clubbing.

In early stages, the nails may be brittle and break easily. It is also associated with Plummer–Vinson syndrome and iron deficiency anemia; it has to be ruled out for diagnosing FK as it was done in this case.

It has also been reported to be associated with lichen planus, syphilis, and rheumatic fever. Three different views have been given for pathogenesis of FK.[3] First, the structural stress ongoing during keratinization process of nail formation. Second, less angulation of the distal part of the nail matrix when compared with proximal end. Third, the changes occurring as a result of anoxia and atrophy of the distal nail matrix.[3] Azoospermia is a condition in which a man has no sperms in his semen. It is classified into three types:

Prestesticular: hormonal disturbance (hypopituitarism, hyperprolactinemia, follicle- stimulating hormone suppression)Testicular: testis is abnormal, atrophied, seen as in Klinefelter's syndrome, orchitis, surgeriesPosttesticular: in which the sperms are produced but not ejaculated due to physical obstruction.

The genetic factors can cause these types of azoospermia.

The pre- and posttesticular azoospermia are correctible, while testicular azoospermia is permanent.

For producing offsprings,in vitro fertilization can be done as a treatment of infertility.

This case report is unique as till now co-occurrence of familial koilonychia and azoospermia has not been reported. Family history-taking is very important during the cases of azoospermia, that is, infertility investigations. Pedigree analysis should be done in such familial koilonychia cases.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Gao XH, Li X, Zhao Y, Wang Y, Chen HD. Familial koilonychia. Int J Dermatol 2001;40:290.
2Bumpers RD, Bishop ME. Familial koilonychia: A current case history. Arch Dermatol 1980;116:746-848.
3Pratap P, Asokan N. Familial koilonychia. Indian J Dermatol 2010;55:406-7.