|Year : 2014 | Volume
| Issue : 1 | Page : 43-45
Bilateral congenital absence of the alae nasi with bilateral auricular sinuses in an albinic child
Department of Pediatrics, Consultant Pediatrician, Aminu Kano Teaching Hospital, Bayero University, Kano, Nigeria
|Date of Web Publication||7-Mar-2014|
Department of Pediatrics, Aminu Kano Teaching Hospital, Kano
The nose forms from the frontal, medial and lateral nasal prominences of the nasal placode and the maxillary processes. Malformation of the nose is variable; it may be unilateral or bilateral and may be complete absence of the nose called arhinia or isolated absence of the alae narsi. Anomalies of the nose may be associated with defects involving structures that originate from the first and second branchial arches but its association with cutaneous pigmentary disorder and anasarca is a rare occurrence. Therefore a case of a three-month-old girl with such combination is reported.
ملخص البحث :
تعنى هذه الحالة المرضية بالفقدان الخلقي لغضاريف فتحات الأنف الأمامية وجيوب صنوان الأذن عند طفل أمهق. يتكون الأنف من البروز الأمامي، والأوسط والجانبي للوحاء الأنف وحدبة الفك العلوي. ويوجد تشوهات مختلفة للأنف، وقد تكون من جانب واحد أو من الجانبين ويمكن فقدانه نهائيا، وتدعى هذه الحالة بعدم وجود الجزء الخارجي للأنف أو فقدان محدد لغضاريف فتحات الأنف الأمامية. التشوهات الخلقية للأنف قد تكون مصحوبة بخلل يشمل الكيان الذي ينشأ من القوسين الأول أو الثاني، ولكن يندر ارتباطها باضطرابات صبغية في الجلد أو استسقاء عام.
Keywords: Alae narsi, albinism, anasarca, auricular, sinus
|How to cite this article:|
Ibrahim A. Bilateral congenital absence of the alae nasi with bilateral auricular sinuses in an albinic child. Saudi J Med Med Sci 2014;2:43-5
|How to cite this URL:|
Ibrahim A. Bilateral congenital absence of the alae nasi with bilateral auricular sinuses in an albinic child. Saudi J Med Med Sci [serial online] 2014 [cited 2019 Aug 20];2:43-5. Available from: http://www.sjmms.net/text.asp?2014/2/1/43/128452
| Introduction|| |
The development of the nose spans from the 3 rd to 10 th week of the intrauterine life.  The frontal, medial and lateral nasal prominences of the nasal placode and the maxillary processes are involved in its development. Common congenital anomalies of the nose consist of complete absence of the nose called total arhinia, absence of the external nose with normal internal nasal structures called partial arhinia (hyporhinia)  and lateral proboscis, which is a unilateral arhinia with a trunk-like projection from a single nostril like an elephant trunk. 
Isolated defect of the alae nasi is not included in this classification. The alae nasi is the wing-like projection of the external nose; it develops from the lateral and medial nasal prominences of the nasal placode.  It is elevated by the levator labii superioris alaeque nasi muscle and receives sensory innervation from the maxillary division of the trigeminal nerve. The alae nasi has some useful functions; its dilation is vital in decreasing airway resistance during inspiration, , and flaring of the alae nasi is a reliable sign of respiratory distress.  Its absence has been associated with other congenital malformations of the face and ear and in Johansson-Blizzard syndrome.  However there is dearth of information of its association with cutaneous hypopigmentation and anasarca. Therefore a case of a three-month-old girl with bilateral absence of the alae nasi, bilateral auricular sinuses and albinism with generalized edema is reported.
| Case Report|| |
A three-month-girl presented to the children emergency with complaint of fever and difficulty in breathing for which she was treated for chest infection with antibiotics and she improved. The child was delivered at term with bilateral nasal defect, auricular sinuses and was light skin complexioned [Figure 1] with pale iris and light brownish hairs. Mother noticed body swelling shortly after birth which started at the lower extremities and subsequently became generalized; this was associated with poor weight gain, but no complaint of recurrent difficulty in breathing or decreased urine output and no history of jaundice. The child had a good suck; the mother had adequate lactation. There was no complaint of choking when breastfed; though she was not exclusively breastfed. There was no history of recurrent diarrheal illness or bleeding and no similar complaint in other relatives. She was the first child in a non-consanguineous marriage setting. Her mother was a 26-year-old stay at home mother with no adverse medical history. The pregnancy was unbooked and had no adverse event. Pertinent findings on examination were absence of both alae nasi, the nasal septum was normal with normal nasal cavities [Figure 2], [Figure 3], [Figure 4]. She also had bilateral auricular sinuses with bilateral eye discharge [Figure 5] and [Figure 6]. She had light skin complexion, light brown and spare hairs, pale iris with generalized pitting edema. She was tachypneic, but the cardiovascular system examination was not remarkable. No intra-abdominal organ was palpable. The liver function test was normal with normal serum protein. The chest X-ray showed a normal-sized heart. Though she had mesocardia [Figure 7], no structural lesion was detected on echocardiography. The serum electrolytes were normal with normal urea, creatinine and urinalysis was also normal. Neither the hair bulb was tested for tyrosinase activity nor was her genotype done due to lack of such facilities. However, based on her phenotypic appearance, the diagnosis of albinism with bilateral absent alae nasi and auricular sinuses with generalized edema was made.
| Discussion|| |
Hypoplasia or absence of the alae nasi may occur as an isolated malformation  or maybe associated with other congenital malformations as in Johansson-Blizzard Syndrome but its association with albinism and generalized edema is unknown. The renal, cardiovascular, digestive systems examinations and serum protein were normal in this case. Furthermore, she did not fulfill other clinical features seen in Johansson-Blizzard Syndrome, since there was no evidence of pancreatic endocrine and exocrine insufficiencies. Therefore, the exact cause of the anasarca is not completely understood. The anasarca might have worsened with the acute febrile illness, but failure of its resolution despite recovering from the acute illness implied that it might have been part of a chronic process. Malnutrition was an unlikely cause as she was just three months old whose predominant meal was breast milk. Bilateral auricular sinuses have been reported in 9.3% of Nigerians  which may occur with other facial defects as in patients with the first and second branchial arch syndromes. However, this combination of albinism, anasarca, auricular sinus and absent alae nasi is a rare event which to the author's knowledge has not been documented before.
| Conclusion|| |
Craniofacial disorders may occur with disorders of other organs and systems in various combinations but its association with albinism and anasarca is a rare event. Though inability to do genetic and extensive metabolic tests due to its non-availability was a limitation in this case report; identifying any of these abnormalities should necessitate a thorough search for other associated defects.
| References|| |
|1.||Lee KJ. Embryology of clefts and pouches: Essential otolaryngology, head and neck surgery. 3 rd ed. New York, NY: Medical Examination Publishing; 1983. |
|2.||Akkuzu G, Akkuzu B, Aydin E, Derbent M, Ozluoglu L. Congenital partial arhinia: A case report. J Med Case Rep 2007;1:97. |
|3.||Tessier P, Ciminello FS, Wolfe SA. The arrhinias. Scand J Plast Reconstr Surg Hand Surg 2009;43:177-96. |
|4.||Castillo M. Congenital abnormalities of the nose: CT and MR findings. Am J Roentgenol 1994;162:1211-7. |
|5.||Carlo WA, Martin RJ, Bruce EN, Strohl KP, Fanaroff AA. Alae nasi activation (nasal flaring) decreases nasal resistance in preterm infants. Pediatrics 1983;72:338-43. |
|6.||Mezzanotte WS, Tangel DJ, White DP. Mechanisms of control of alae nasi muscle activity. J Appl Physiol 1992;72:925-33. |
|7.||Wiebe RA. General approach to the pediatric patient. In: Marx J, editor. Rosen's Emergency Medicine: Concepts and Clinical Practice. 6 th ed. St. Louis, Mo: Mosby; 2006. |
|8.||Johansson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hyp`othyroidism, dwarfism, absent permanent teeth, and malabsorption. J Pediatr 1971;79:982-7. |
|9.||Cervelli V, Gentile P, Bottini DJ. Reconstruction of the alar nose. J Craniofac Surg 2007;18:1477-9. |
|10.||Jimoh OR, Alabi SB, Adebayo SS. Prevalence of pre-auricular sinus among Nigerians. Surg J 2008;3:61-3. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]