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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 6  |  Issue : 2  |  Page : 80-82  

Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation


1 Departments of Dermatology, Venereology, and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland
2 Center for Dermatology and Hair Diseases Professor Treb, Zurich, Wallisellen, Switzerland

Date of Web Publication13-Aug-2014

Correspondence Address:
Ralph M Treb
Center for Dermatology and Hair Diseases, Bahnhofplatz 1A, CH-8304 Wallisellen, Switzerland

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-7753.138598

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   Abstract 

Diffuse partial woolly hair (DPWH) is an uncommon pilar dysplasia defined by the presence of two hair shaft populations with wooly hairs distributed diffusely among normal hairs throughout the scalp. So far the condition has been reported as an isolated disorder with familial occurrence. We report a case of DPWH in 35-year-old female patient with epidermolysis bullosa with mottled pigmentation.

Keywords: Diffuse partial woolly hair, epidermolysis bullosa simplex with mottled pigmentation, topical minoxidil


How to cite this article:
Gerkowicz A, Treb RM. Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. Int J Trichol 2014;6:80-2

How to cite this URL:
Gerkowicz A, Treb RM. Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. Int J Trichol [serial online] 2014 [cited 2020 Sep 26];6:80-2. Available from: http://www.ijtrichology.com/text.asp?2014/6/2/80/138598


   Introduction Top


Diffuse partial wooly hair (DPWH) was originally reported by Ormerod et al. [1] in a family of six individuals. It is characterized by fine, short, and kinky hairs interspersed with normal hair throughout the scalp. The proportion of abnormal hairs has been calculated to amount from 20% to 30% of hairs. [1],[2] The disorder has been observed both in children and in adults. [1],[3],[4],[5] Some complained of thinning of scalp hair. [1],[3] The possibility that DPWH may be associated with progressive miniaturization of hair follicles may account for the presence of hair thinning in adult patients affected by this abnormality. [5] So far, DPWH has not been observed in association with other abnormalities. We report a case of DPWH in a patient with epidermolysis bullosa simplex with mottled pigmentation (EBS-MT), and discuss whether this association is fortuitous or whether DPWH may have an as yet unidentified underlying keratin disorder in common with EBS-MT.


   Case report Top


A 35-year-old female patient presented with a history of unruly hair and the complaint of hair thinning. She was previously diagnosed EBS-MT confirmed by mutational analysis.

Clinical examination revealed coarse hair and an irregular central hair part line with small clear areas on both sides [Figure 1]a]. Closer examination exhibited two types of hair shafts: The first were straight, while the second were wavy and shorter [Figure 2]. The second type of hair was diffusely interspersed with the normal hair throughout the scalp. The proportion of wavy hairs in a probe of 212 hairs obtained by cutting was calculated to be 28%. In addition, dermoscopic examination revealed diversity of hair shaft diameters (anisotrichosis). Eyebrows and body hair were not affected.
Figure 1: (a) Coarse hair and an irregular central hair part line with small clear areas on both sides. (b) Coarse hair and tightened central hair part line

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Figure 2: Two populations of hair shafts: Normal hair shafts are straight, the second type of hair shafts are wavy and shorter

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Examination of the skin showed discrete pigmented spots located on the extremities and punctate palmar keratoses. The patient reported having suffered from skin blistering during childhood and nail dystrophy. She noticed the first appearance of isolated curly hair in her youth.

The patient was otherwise healthy, and was the first in her family with EBS-MT. She reported that her mother had alopecia, not otherwise specified, and that her two daughters suffered from the same skin problems.

Based on the clinical findings a diagnosis of DPWH in combination with female androgenetic alopecia in a patient with EBS-MT was established. Treatment with 5% topical minoxidil solution once daily in combination with 5 mg oral biotin was prescribed, and the patient was advised to use a shampoo designed for care of dry and unruly hair on the basis of papyrus milk and cationic polymers.

At 6-month follow-up of treatment, the widened central hair part tightened, and dermoscopy revealed significant reduction of anisotrichosis, while the proportion of wavy hairs remained unchanged [Figure 1]b]. Nevertheless, the patient reported improvement of her hair condition in terms of density and manageability, and was overall satisfied with the treatment outcome.


   Discussion Top


According to the literature data so far there have been single reports [1],[5] and small case series regarding DPWH. [3],[4] Our patient presented the typical features of the disorder with first symptoms appearing during adolescence, hair dysplasia limited to the scalp hair and two distinct populations of hair shafts scattered over the entire scalp with a proportion of woolly hair of approximately 20-30%. [1],[2] Previously others have additionally drawn attention to the complaint of hair thinning. [1],[3],[5] While Lalevic-Vasic et al. interpreted this finding as due to a progressive loss of wavy hairs, [3] Guidetti et al. proposed that DPWH may result from a progressive miniaturization of the hair follicles. [5] In the first case, the differential diagnosis would have to be made from partial diffuse woolly hair associated with the loose anagen hair syndrome, [4] and in the latter from acquired kinking of the hair in androgenetic alopecia. [6] Our case fulfills the criteria for diagnosis of DPWH, and we interpret androgenetic alopecia to represent a co-morbidity. Accordingly, treatment with topical minoxidil solution targeted the androgenetic alopecia component. Oral biotin was given, besides special hair care recommendations, with the aim to improve the condition of the hair shaft, as previously reported to be beneficial in siblings with ectodermal dysplasia and uncombable hair. [7]

Contrary to other entities within the woolly hair group, DPWH so far has not been associated with any other disorder, particularly palmoplantar keratosis and cardiac anomalies. [8] In our patient, punctate palmar keratosis and onychodystrophy were manifestations of EBS-MT. EBS-MT represents an autosomal dominant disorder that is characterized by nonscaring blister formation usually on palms and soles at birth or in infancy in association with abnormal skin pigmentation later in life. The blistering tends to decrease with age. A typical finding in adult patients is punctate palmoplantar hyperkeratosis. The gene mutation responsible for EBS-MT has been identified to affect the keratin 5 gene. [9] While woolly hair (in association with hypotrichosis) has been described in association with the EBS skin fragility syndromes due to mutations of desmoplakin (skin fragility-woolly hair syndrome), plakophilin 1 (skin fragility-ectodermal dysplasia syndrome), or plakoglobin (skin fragility plakoglobin deficiency), [10] DPWH has not been previously reported in EBS-MT. This association may, therefore, be fortuitous, or DPWH may have an as yet unidentified underlying keratin disorder in common with EBS-MT. Further observations and studies into the molecular and genetic basis of DPWH are required to confirm or exclude the possible connection.

 
   References Top

1.Ormerod AD, Main RA, Ryder ML, Gregory DW. A family with diffuse partial woolly hair. Br J Dermatol 1987;116:401-5.  Back to cited text no. 1
[PUBMED]    
2.Otberg N, Blume-Peytavi U. Wooly hair syndrome. Orphanet encyclopedia 2003. Available from: http://www.orpha.net/data/patho/GB/uk-woollyhair.pdf. [Last cited on 2014 Jun 21].  Back to cited text no. 2
    
3.Lalevic-Vasic BM, Nikolic MM, Polic DJ, Radosavljevic B. Diffuse partial woolly hair. Dermatology 1993;187:243-7.  Back to cited text no. 3
    
4.Chapalain V, Winter H, Langbein L, Le Roy JM, Labrèze C, Nikolic M, et al. Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. Arch Dermatol 2002;138:501-6.  Back to cited text no. 4
    
5.Guidetti MS, Fanti PA, Piraccini BM, Barbareschi M, Tosti A. Diffuse partial woolly hair. Acta Derm Venereol 1995;75:141-2.  Back to cited text no. 5
    
6.Tosti A, Piraccini BM, Pazzaglia M, Misciali C. Acquired progressive kinking of the hair: Clinical features, pathological study, and follow-up of 7 patients. Arch Dermatol 1999;135:1223-6.  Back to cited text no. 6
    
7.Shelley WB, Shelley ED. Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia. J Am Acad Dermatol 1985;13:97-102.  Back to cited text no. 7
[PUBMED]    
8.Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: Cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004;13:185-94.  Back to cited text no. 8
    
9.Echeverría-García B, Vicente A, Hernández Á, Mascaró JM, Colmenero I, Terrón A, et al. Epidermolysis bullosa simplex with mottled pigmentation: A family report and review. Pediatr Dermatol 2013;30:e125-31.  Back to cited text no. 9
    
10.Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014;70:1103-26.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2]



 

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