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   Abstract
   Introduction
   Case Report
   Discussion
   References
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CASE REPORT
Year : 2000  |  Volume : 66  |  Issue : 6  |  Page : 320-321

Psychomotor Retardation - an Unusual Association of Keratosis Follicularis Spinulosa Decalvans




Correspondence Address:
Qazi Masood


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Source of Support: None, Conflict of Interest: None


PMID: 20877117

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  Abstract 

Keratosis follicularis spinulosa decalvans is one of a group of related disorders that shows keratosis pilaris with inflammation followed by atrophy. Here we report a case of this relatively rare disorder in a 6-year old boy who had associated psychomotor retardation.


Keywords: Keratosis pilaris, Atrophy


How to cite this article:
Masood Q, Manzoor S, Hassan I, Majid I. Psychomotor Retardation - an Unusual Association of Keratosis Follicularis Spinulosa Decalvans. Indian J Dermatol Venereol Leprol 2000;66:320-1

How to cite this URL:
Masood Q, Manzoor S, Hassan I, Majid I. Psychomotor Retardation - an Unusual Association of Keratosis Follicularis Spinulosa Decalvans. Indian J Dermatol Venereol Leprol [serial online] 2000 [cited 2020 Jun 4];66:320-1. Available from: http://www.ijdvl.com/text.asp?2000/66/6/320/4962



  Introduction Top


Keratosis follicularis spinulosa decalvans (KFSD), a sex- linked dominant disorder with onset in early infancy is characterised by keratosis pilaris which begins on the face and gradually progresses to involve the rest of the body, followed by atrophic alopecia of the scalp and eyebrows which is a hallmark of the disease. Associated features include atopy, photophobia, corneal abnormalities and hyperkeratosis of palms and soles.


  Case Report Top


A 6 -year old boy, product of a nonconsanguinous marriage presented with progressive loss of scalp hair, eyebrows and eyelashes since early infacny. History of generalised pruritus with photophobia which was progressively increasing in intensity was also present along with delayed developmental milestones. Family history was noncontributory except for a history of atopy in the mother. On general physical examination, the patient's anthropometric measurements were below the 3rd percentile for his age and sex with a height of 91 cms against a normal of 110-115 cms. Cutaneous examination revealed dysmorphic features with a broad nose, depressed nasal bridge, large ears and a broad forehead. The skin was dry and diffuse keratotic follicular papules on an erythematous base were present all over the body predominantly on the scalp and face with sparing of neck, hands and feet. Scalp hair was sparse, dry and lustreless with prominent atrophy of the scalp skin. Eyebrows and eyelashes were conspicuously absent [Figure - 1]. Dentition was normal and examination of the mucosae, nails, palms and soles was noncontributory.

Neuropsychiatric evaluation revealed a subnormal intelligence quotient of 65 however, rest of systemic examination was within normal limits. On opthalmological examination, the cornea was normal but fundus examination revealed bilateral small optic dises with pale retinae. Routine investigations like hemogram, urinalysis, chest skiagram and elcetrocardiogram were within normal limits. Light microscopy of the plucked hair did not reveal any abnormality as also non- contributory. Skin biopsy taken from one of the keratotic follicular lesions on the scalp revealed normal epidermis and plugging of the hair follicles with keratin with perifollicular mild chronic inflammatory cell infiltrate.


  Discussion Top


Keratosis follicularis spinulosa decalvans, a relatively rare disorder, was first described by Macleod[1] however, it was Siemens who first used this descriptive term.[2] The original description characterised the patients as having follicular papules of the face, trunk and extremities. Scarring of the hair follicles was associated with loss of hair from the scalp, eyebrows and eyelashes. Typical eye symptoms included photophobia and corneal and conjnctival inflammation. Palmoplantar hyperkeratosis was a frequently associated finding. Sex-linked dominant inheritance was proposed implying that the most severe manifestations were to be found in male patients.[2]

Kuokkanen[3] described KFSD in a family from Northern Finland and Adler and Nyhan[4] described a patient of KFSD who had congenital glaucoma, cataracts, arachnodactyly, mental retardation and aminoaciduria.

In our patient, typical follicular keratotic lesions along with atrophic alopecia of scalp, eyebrows and eyelashes, photophobia and a history of atopy enabled us to make a diagnosis of keratotic follicularis spinulosa decalvans (KFSD).[5] However, psychomotor retardation was also present in our pateint which to the best of our knowledge has not been reported in association with KFSD although mental retardation has been reported.

 
  References Top

1.Macleod JM. Three cases of ichthyosis associates with baldness. Br J Dermatol 1909;21:165-189.  Back to cited text no. 1    
2.Siemens HW. Keratosis follicularis spinulosa decalvans. Arch Dermatol Syphilol 1926;151:384-387.  Back to cited text no. 2    
3.Kuokkanen K, Keratosis follicularis spinulosa decalvans in a family from Northern Finland. Acta Derm venereol 1971;51:146-150.  Back to cited text no. 3    
4.Adler RC, Nyhan WL. An oculocerebral syndrome with aminoaciduria and keratosis follicularis. J Pediatr 1969;75:436-442.  Back to cited text no. 4    
5.Rhonda R, Baden HP. Keratosis follicularis spinulosa decalvans. A report of 2 cases and literature review. Arch Dermatol 1983; 119:22-27.  Back to cited text no. 5    


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